WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs829417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21616643C>G , CM000663.2:g.21616643C>G | GRCh38 |
| NC_000001.10:g.21943136C>G , CM000663.1:g.21943136C>G | GRCh37 |
| NC_000001.9:g.21815723C>G | NCBI36 |
| NG_029807.1:g.57721G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374765.9:c.291+663G>C MANE Select | ENSP00000363897.4:n.291+663G>C | |
| ENST00000290101.8:c.291+663G>C | ENSP00000290101.5:n.291+663G>C | |
| ENST00000374757.7:n.951+663G>C | ||
| ENST00000374761.6:c.384+663G>C | ENSP00000363893.2:n.384+663G>C | |
| ENST00000374763.6:c.291+663G>C | ENSP00000363895.2:n.291+663G>C | |
| ENST00000374765.8:c.291+663G>C | ENSP00000363897.4:n.291+663G>C | |
| ENST00000471600.6:c.291+663G>C | ENSP00000431364.1:n.291+663G>C | |
| ENST00000495204.5:c.483+663G>C | ENSP00000434033.2:n.483+663G>C | |
| ENST00000542643.6:c.291+663G>C | ENSP00000441661.1:n.291+663G>C | |
| ENST00000611549.4:n.486+663G>C | ||
| NM_001145657.1:c.291+663G>C | NP_001139129.1:n.291+663G>C | |
| NM_001145658.1:c.483+663G>C | NP_001139130.1:n.483+663G>C | |
| NM_002885.2:c.291+663G>C | NP_002876.2:n.291+663G>C | |
| XM_005245955.2:c.291+663G>C | XP_005246012.2:n.291+663G>C | |
| XM_006710804.2:c.291+663G>C | XP_006710867.2:n.291+663G>C | |
| XM_006710805.2:c.291+663G>C | XP_006710868.2:n.291+663G>C | |
| XR_946725.1:n.561+663G>C | ||
| XR_946726.1:n.561+663G>C | ||
| XR_946727.1:n.561+663G>C | ||
| XR_946728.1:n.510+663G>C | ||
| XR_946729.1:n.561+663G>C | ||
| XR_946730.1:n.529+663G>C | ||
| XR_946731.1:n.670+663G>C | ||
| XR_946732.1:n.597+663G>C | ||
| XR_946733.1:n.596+663G>C | ||
| NM_001145657.2:c.291+663G>C | NP_001139129.1:n.291+663G>C | |
| NM_001145658.2:c.483+663G>C | NP_001139130.1:n.483+663G>C | |
| NM_001330383.2:c.291+663G>C | NP_001317312.1:n.291+663G>C | |
| NM_001350524.1:c.291+663G>C | NP_001337453.1:n.291+663G>C | |
| NM_001350525.1:c.291+663G>C | NP_001337454.1:n.291+663G>C | |
| NM_001350526.1:c.291+663G>C | NP_001337455.1:n.291+663G>C | |
| NM_001350527.1:c.291+663G>C | NP_001337456.1:n.291+663G>C | |
| NM_001350528.1:c.291+663G>C | NP_001337457.1:n.291+663G>C | |
| NM_002885.3:c.291+663G>C | NP_002876.2:n.291+663G>C | |
| XM_005245955.3:c.291+663G>C | XP_005246012.2:n.291+663G>C | |
| XM_017001965.1:c.291+663G>C | XP_016857454.1:n.291+663G>C | |
| XM_017001966.1:c.291+663G>C | XP_016857455.1:n.291+663G>C | |
| XM_017001967.1:c.291+663G>C | XP_016857456.1:n.291+663G>C | |
| XM_017001968.1:c.291+663G>C | XP_016857457.1:n.291+663G>C | |
| XM_017001969.1:c.291+663G>C | XP_016857458.1:n.291+663G>C | |
| XM_017001970.1:c.291+663G>C | XP_016857459.1:n.291+663G>C | |
| XM_017001971.1:c.483+663G>C | XP_016857460.1:n.483+663G>C | |
| XM_017001972.1:c.291+663G>C | XP_016857461.1:n.291+663G>C | |
| XM_017001973.1:c.291+663G>C | XP_016857462.1:n.291+663G>C | |
| XM_017001974.1:c.291+663G>C | XP_016857463.1:n.291+663G>C | |
| XM_017001975.1:c.291+663G>C | XP_016857464.1:n.291+663G>C | |
| XM_017001976.1:c.291+663G>C | XP_016857465.1:n.291+663G>C | |
| XM_017001977.1:c.291+663G>C | XP_016857466.1:n.291+663G>C | |
| XM_017001980.1:c.483+663G>C | XP_016857469.1:n.483+663G>C | |
| XM_017001982.1:c.291+663G>C | XP_016857471.1:n.291+663G>C | |
| XM_017001984.1:c.291+663G>C | XP_016857473.1:n.291+663G>C | |
| XM_017001985.1:c.483+663G>C | XP_016857474.1:n.483+663G>C | |
| XM_017001987.1:c.291+663G>C | XP_016857476.1:n.291+663G>C | |
| XM_017001988.1:c.291+663G>C | XP_016857477.1:n.291+663G>C | |
| XM_017001990.1:c.291+663G>C | XP_016857479.1:n.291+663G>C | |
| XM_017001991.1:c.291+663G>C | XP_016857480.1:n.291+663G>C | |
| XR_001737348.1:n.563+663G>C | ||
| XR_001737349.2:n.563+663G>C | ||
| XR_001737350.1:n.561+663G>C | ||
| XR_001737351.1:n.520+663G>C | ||
| XR_001737352.1:n.927+663G>C | ||
| XR_001737353.2:n.515+663G>C | ||
| XR_001737354.1:n.690+663G>C | ||
| XR_001737355.2:n.690+663G>C | ||
| XR_001737356.2:n.650+663G>C | ||
| XR_946728.2:n.523+663G>C | ||
| XR_946729.3:n.561+663G>C | ||
| XR_946730.2:n.528+663G>C | ||
| XR_946731.2:n.796+663G>C | ||
| XR_946733.2:n.710+663G>C | ||
| NM_001145657.3:c.291+663G>C | NP_001139129.1:n.291+663G>C | |
| NM_001145658.3:c.483+663G>C | NP_001139130.1:n.483+663G>C | |
| NM_001330383.3:c.291+663G>C | NP_001317312.1:n.291+663G>C | |
| NM_001350524.2:c.291+663G>C | NP_001337453.1:n.291+663G>C | |
| NM_001350525.2:c.291+663G>C | NP_001337454.1:n.291+663G>C | |
| NM_001350526.2:c.291+663G>C | NP_001337455.1:n.291+663G>C | |
| NM_001350527.2:c.291+663G>C | NP_001337456.1:n.291+663G>C | |
| NM_001350528.2:c.291+663G>C | NP_001337457.1:n.291+663G>C | |
| NM_002885.4:c.291+663G>C MANE Select | NP_002876.2:n.291+663G>C | |
| NM_001388200.1:c.291+663G>C | NP_001375129.1:n.291+663G>C | |
| NM_001388201.1:c.291+663G>C | NP_001375130.1:n.291+663G>C | |
| NM_001388202.1:c.291+663G>C | NP_001375131.1:n.291+663G>C | |
| NM_001388203.1:c.291+663G>C | NP_001375132.1:n.291+663G>C | |
| NM_001388204.1:c.291+663G>C | NP_001375133.1:n.291+663G>C | |
| NM_001388205.1:c.291+663G>C | NP_001375134.1:n.291+663G>C | |
| NM_001388206.1:c.291+663G>C | NP_001375135.1:n.291+663G>C | |
| NM_001388207.1:c.291+663G>C | NP_001375136.1:n.291+663G>C | |
| NM_001388208.1:c.291+663G>C | NP_001375137.1:n.291+663G>C | |
| NM_001388209.1:c.291+663G>C | NP_001375138.1:n.291+663G>C | |
| NM_001388210.1:c.291+663G>C | NP_001375139.1:n.291+663G>C | |
| NM_001388211.1:c.291+663G>C | NP_001375140.1:n.291+663G>C | |
| NM_001388212.1:c.291+663G>C | NP_001375141.1:n.291+663G>C | |
| NM_001388213.1:c.291+663G>C | NP_001375142.1:n.291+663G>C | |
| NM_001388214.1:c.291+663G>C | NP_001375143.1:n.291+663G>C | |
| NM_001388215.1:c.291+663G>C | NP_001375144.1:n.291+663G>C | |
| NM_001388216.1:c.291+663G>C | NP_001375145.1:n.291+663G>C | |
| NM_001388217.1:c.291+663G>C | NP_001375146.1:n.291+663G>C | |
| NM_001388218.1:c.291+663G>C | NP_001375147.1:n.291+663G>C | |
| NM_001388219.1:c.291+663G>C | NP_001375148.1:n.291+663G>C | |
| NM_001388220.1:c.291+663G>C | NP_001375149.1:n.291+663G>C | |
| NM_001388221.1:c.291+663G>C | NP_001375150.1:n.291+663G>C | |
| NM_001388222.1:c.291+663G>C | NP_001375151.1:n.291+663G>C | |
| NM_001388223.1:c.291+663G>C | NP_001375152.1:n.291+663G>C | |
| NM_001388224.1:c.291+663G>C | NP_001375153.1:n.291+663G>C | |
| NM_001388225.1:c.291+663G>C | NP_001375154.1:n.291+663G>C | |
| NM_001388226.1:c.291+663G>C | NP_001375155.1:n.291+663G>C | |
| NM_001388227.1:c.291+663G>C | NP_001375156.1:n.291+663G>C | |
| NM_001388228.1:c.291+663G>C | NP_001375157.1:n.291+663G>C | |
| NM_001388229.1:c.291+663G>C | NP_001375158.1:n.291+663G>C | |
| NM_001388230.1:c.291+663G>C | NP_001375159.1:n.291+663G>C | |
| NM_001388231.1:c.264+663G>C | NP_001375160.1:n.264+663G>C | |
| NM_001388233.1:c.252+663G>C | NP_001375162.1:n.252+663G>C | |
| NM_001388234.1:c.291+663G>C | NP_001375163.1:n.291+663G>C | |
| NM_001388235.1:c.291+663G>C | NP_001375164.1:n.291+663G>C | |
| NM_001388236.1:c.291+663G>C | NP_001375165.1:n.291+663G>C | |
| NM_001388237.1:c.291+663G>C | NP_001375166.1:n.291+663G>C | |
| NM_001388238.1:c.291+663G>C | NP_001375167.1:n.291+663G>C | |
| NM_001388239.1:c.291+663G>C | NP_001375168.1:n.291+663G>C | |
| NM_001388240.1:c.291+663G>C | NP_001375169.1:n.291+663G>C | |
| NM_001388241.1:c.291+663G>C | NP_001375170.1:n.291+663G>C | |
| NM_001388242.1:c.291+663G>C | NP_001375171.1:n.291+663G>C | |
| NM_001388243.1:c.291+663G>C | NP_001375172.1:n.291+663G>C | |
| NM_001388244.1:c.291+663G>C | NP_001375173.1:n.291+663G>C | |
| NM_001388245.1:c.291+663G>C | NP_001375174.1:n.291+663G>C | |
| NM_001388246.1:c.291+663G>C | NP_001375175.1:n.291+663G>C | |
| NM_001388247.1:c.291+663G>C | NP_001375176.1:n.291+663G>C | |
| NM_001388248.1:c.291+663G>C | NP_001375177.1:n.291+663G>C | |
| NM_001388249.1:c.291+663G>C | NP_001375178.1:n.291+663G>C | |
| NM_001388250.1:c.291+663G>C | NP_001375179.1:n.291+663G>C | |
| NM_001388251.1:c.291+663G>C | NP_001375180.1:n.291+663G>C | |
| NM_001388252.1:c.291+663G>C | NP_001375181.1:n.291+663G>C | |
| NM_001388253.1:c.291+663G>C | NP_001375182.1:n.291+663G>C | |
| NM_001388254.1:c.291+663G>C | NP_001375183.1:n.291+663G>C | |
| NM_001388255.1:c.291+663G>C | NP_001375184.1:n.291+663G>C | |
| NM_001388256.1:c.291+663G>C | NP_001375185.1:n.291+663G>C | |
| NM_001388258.1:c.291+663G>C | NP_001375187.1:n.291+663G>C | |
| NM_001388259.1:c.291+663G>C | NP_001375188.1:n.291+663G>C | |
| NM_001388261.1:c.291+663G>C | NP_001375190.1:n.291+663G>C | |
| NM_001388263.1:c.291+663G>C | NP_001375192.1:n.291+663G>C | |
| NM_001388264.1:c.291+663G>C | NP_001375193.1:n.291+663G>C | |
| NM_001388266.1:c.291+663G>C | NP_001375195.1:n.291+663G>C | |
| NM_001388267.1:c.291+663G>C | NP_001375196.1:n.291+663G>C | |
| NM_001388269.1:c.291+663G>C | NP_001375198.1:n.291+663G>C | |
| NM_001388270.1:c.291+663G>C | NP_001375199.1:n.291+663G>C | |
| NM_001388273.1:c.291+663G>C | NP_001375202.1:n.291+663G>C | |
| NM_001388276.1:c.-175+663G>C | NP_001375205.1:n.-175+663G>C | |
| NM_001388279.1:c.-175+663G>C | NP_001375208.1:n.-175+663G>C | |
| NM_001388280.1:c.-175+663G>C | NP_001375209.1:n.-175+663G>C | |
| NM_001388281.1:c.-175+663G>C | NP_001375210.1:n.-175+663G>C | |
| NM_001388282.1:c.175-2554G>C | NP_001375211.1:n.175-2554G>C | |
| NM_001388283.1:c.291+663G>C | NP_001375212.1:n.291+663G>C | |
| NM_001388284.1:c.291+663G>C | NP_001375213.1:n.291+663G>C | |
| NM_001388285.1:c.291+663G>C | NP_001375214.1:n.291+663G>C | |
| NM_001388286.1:c.483+663G>C | NP_001375215.1:n.483+663G>C | |
| NM_001388287.1:c.483+663G>C | NP_001375216.1:n.483+663G>C | |
| NM_001388288.1:c.483+663G>C | NP_001375217.1:n.483+663G>C | |
| NM_001388289.1:c.483+663G>C | NP_001375218.1:n.483+663G>C | |
| NM_001388290.1:c.483+663G>C | NP_001375219.1:n.483+663G>C | |
| NM_001388291.1:c.483+663G>C | NP_001375220.1:n.483+663G>C | |
| NM_001388292.1:c.483+663G>C | NP_001375221.1:n.483+663G>C | |
| NM_001388293.1:c.483+663G>C | NP_001375222.1:n.483+663G>C | |
| NM_001388294.1:c.483+663G>C | NP_001375223.1:n.483+663G>C | |
| NM_001388295.1:c.483+663G>C | NP_001375224.1:n.483+663G>C | |
| NM_001388296.1:c.483+663G>C | NP_001375225.1:n.483+663G>C | |
| NR_170899.1:n.543+663G>C | ||
| NR_170900.1:n.543+663G>C | ||
| NR_170901.1:n.543+663G>C | ||
| NR_170902.1:n.543+663G>C | ||
| NR_170903.1:n.650+663G>C | ||
| NR_170904.1:n.543+663G>C | ||
| NR_170905.1:n.733+663G>C | ||
| NR_170906.1:n.650+663G>C | ||
| NR_170907.1:n.959+663G>C | ||
| NR_170908.1:n.650+663G>C | ||
| NR_170909.1:n.507+663G>C | ||
| NR_170910.1:n.733+663G>C | ||
| NR_170911.1:n.507+663G>C | ||
| NR_170912.1:n.733+663G>C | ||
| NR_170913.1:n.626+663G>C | ||
| NR_170914.1:n.650+663G>C | ||
| NR_170915.1:n.507+663G>C | ||
| NR_170916.1:n.547+663G>C | ||
| NR_170920.1:n.650+663G>C | ||
| NR_170921.1:n.543+663G>C | ||
| NR_170923.1:n.559+663G>C | ||
| NR_170924.1:n.559+663G>C | ||
| NR_170925.1:n.1501+663G>C | ||
| NR_170926.1:n.559+663G>C | ||
| NR_170927.1:n.1175+663G>C | ||
| NR_170928.1:n.1191+663G>C | ||
| NR_170929.1:n.959+663G>C |