Linked Data
ClinVar Variation Id:
346742
ClinVar RCV Id:
RCV000389493
dbSNP Id:
rs886058888
gnomAD v2:
3-77697121-C-T
gnomAD v3:
3-77647970-C-T
gnomAD v4:
3-77647970-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.77647970C>T , CM000665.2:g.77647970C>T | GRCh38 |
| NC_000003.11:g.77697121C>T , CM000665.1:g.77697121C>T | GRCh37 |
| NC_000003.10:g.77779811C>T | NCBI36 |
| NG_027734.1:g.1746277C>T | |
| NG_027734.2:g.1746277C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696593.1:c.*1915C>T MANE Select | ENSP00000512738.1:n.*1915C>T | |
| ENST00000461745.5:c.*1915C>T | ENSP00000417164.1:n.*1915C>T | |
| ENST00000470802.1:n.8040C>T | ||
| ENST00000614793.4:c.5668C>T | ENSP00000480344.1:n.5668C>T | |
| NM_001128929.3:c.*1915C>T | NP_001122401.1:n.*1915C>T | |
| NM_001290039.1:c.*1915C>T | NP_001276968.1:n.*1915C>T | |
| NM_001290040.1:c.*1915C>T | NP_001276969.1:n.*1915C>T | |
| NM_001290065.1:c.*1915C>T | NP_001276994.1:n.*1915C>T | |
| NM_002942.4:c.*1915C>T | NP_002933.1:n.*1915C>T | |
| XM_011533981.1:c.*1912C>T | XP_011532283.1:n.*1912C>T | |
| XM_011533982.1:c.*1915C>T | XP_011532284.1:n.*1915C>T | |
| XM_011533983.1:c.*1915C>T | XP_011532285.1:n.*1915C>T | |
| XM_011533984.1:c.*1915C>T | XP_011532286.1:n.*1915C>T | |
| XM_011533985.1:c.*1915C>T | XP_011532287.1:n.*1915C>T | |
| XM_011533981.2:c.*1912C>T | XP_011532283.1:n.*1912C>T | |
| XM_017006986.1:c.*1915C>T | XP_016862475.1:n.*1915C>T | |
| XM_017006987.1:c.*1915C>T | XP_016862476.1:n.*1915C>T | |
| XM_017006988.1:c.*1912C>T | XP_016862477.1:n.*1912C>T | |
| XM_017006989.1:c.*1915C>T | XP_016862478.1:n.*1915C>T | |
| XM_017006990.1:c.*1915C>T | XP_016862479.1:n.*1915C>T | |
| XM_017006991.1:c.*1915C>T | XP_016862480.1:n.*1915C>T | |
| XM_017006992.1:c.*1915C>T | XP_016862481.1:n.*1915C>T | |
| XM_017006993.1:c.*1915C>T | XP_016862482.1:n.*1915C>T | |
| XM_017006994.1:c.*1912C>T | XP_016862483.1:n.*1912C>T | |
| XM_017006995.1:c.*1912C>T | XP_016862484.1:n.*1912C>T | |
| XM_017006996.1:c.*1915C>T | XP_016862485.1:n.*1915C>T | |
| XM_017006997.1:c.*1912C>T | XP_016862486.1:n.*1912C>T | |
| XM_017006998.1:c.*1915C>T | XP_016862487.1:n.*1915C>T | |
| XM_017006999.1:c.*1912C>T | XP_016862488.1:n.*1912C>T | |
| XM_017007000.1:c.*1915C>T | XP_016862489.1:n.*1915C>T | |
| XM_017007001.1:c.*1912C>T | XP_016862490.1:n.*1912C>T | |
| XM_017007002.1:c.*1915C>T | XP_016862491.1:n.*1915C>T | |
| XM_017007003.1:c.*1915C>T | XP_016862492.1:n.*1915C>T | |
| XM_017007004.1:c.*1915C>T | XP_016862493.1:n.*1915C>T | |
| XM_017007005.1:c.*1912C>T | XP_016862494.1:n.*1912C>T | |
| XM_017007006.1:c.*1915C>T | XP_016862495.1:n.*1915C>T | |
| NM_001290039.2:c.*1915C>T | NP_001276968.1:n.*1915C>T | |
| NM_001290040.2:c.*1915C>T | NP_001276969.1:n.*1915C>T | |
| NM_001290065.2:c.*1915C>T | NP_001276994.1:n.*1915C>T | |
| NM_002942.5:c.*1915C>T | NP_002933.1:n.*1915C>T | |
| NM_001378190.1:c.*1915C>T | NP_001365119.1:n.*1915C>T | |
| NM_001378191.1:c.*1915C>T | NP_001365120.1:n.*1915C>T | |
| NM_001378192.1:c.*1915C>T | NP_001365121.1:n.*1915C>T | |
| NM_001378193.1:c.*1915C>T | NP_001365122.1:n.*1915C>T | |
| NM_001378194.1:c.*1912C>T | NP_001365123.1:n.*1912C>T | |
| NM_001378195.1:c.*1915C>T | NP_001365124.1:n.*1915C>T | |
| NM_001378196.1:c.*1912C>T | NP_001365125.1:n.*1912C>T | |
| NM_001378197.1:c.*1915C>T | NP_001365126.1:n.*1915C>T | |
| NM_001378198.1:c.*1915C>T | NP_001365127.1:n.*1915C>T | |
| NM_001378199.1:c.*1912C>T | NP_001365128.1:n.*1912C>T | |
| NM_001378200.1:c.*1915C>T | NP_001365129.1:n.*1915C>T | |
| NM_001378201.1:c.*1912C>T | NP_001365130.1:n.*1912C>T | |
| NM_001378202.1:c.*1915C>T | NP_001365131.1:n.*1915C>T | |
| NM_001378203.1:c.*1912C>T | NP_001365132.1:n.*1912C>T | |
| NM_001394212.1:c.*1915C>T | NP_001381141.1:n.*1915C>T | |
| NM_001394213.1:c.*1915C>T | NP_001381142.1:n.*1915C>T | |
| NM_001394214.1:c.*1915C>T | NP_001381143.1:n.*1915C>T | |
| NM_001395656.1:c.*1915C>T MANE Select | NP_001382585.1:n.*1915C>T | |
| NM_001395657.1:c.*1912C>T | NP_001382586.1:n.*1912C>T |