Linked Data
dbSNP Id:
rs11630316
gnomAD v2:
15-70369378-T-C
gnomAD v3:
15-70077039-T-C
gnomAD v4:
15-70077039-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.70077039T>C , CM000677.2:g.70077039T>C | GRCh38 |
| NC_000015.9:g.70369378T>C , CM000677.1:g.70369378T>C | GRCh37 |
| NC_000015.8:g.68156432T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000451782.7:c.235-881A>G MANE Select | ENSP00000394717.3:n.235-881A>G | |
| ENST00000557984.6:c.245-881A>G | ||
| ENST00000560525.6:c.235-881A>G | ENSP00000453219.2:n.235-881A>G | |
| ENST00000654081.1:n.106-881A>G | ||
| ENST00000317509.12:c.235-881A>G | ENSP00000319233.8:n.235-881A>G | |
| ENST00000440567.7:c.214-881A>G | ENSP00000415057.3:n.214-881A>G | |
| ENST00000451782.6:c.235-881A>G | ENSP00000394717.2:n.235-881A>G | |
| ENST00000539550.5:c.37-881A>G | ENSP00000442594.1:n.37-881A>G | |
| ENST00000557907.5:c.235-881A>G | ENSP00000453107.1:n.235-881A>G | |
| ENST00000557919.5:c.235-881A>G | ENSP00000452803.1:n.235-881A>G | |
| ENST00000557984.5:c.229-881A>G | ENSP00000452809.1:n.229-881A>G | |
| ENST00000557997.5:c.235-881A>G | ENSP00000453083.1:n.235-881A>G | |
| ENST00000558201.5:c.253-881A>G | ENSP00000452881.1:n.253-881A>G | |
| ENST00000558379.5:c.235-881A>G | ENSP00000453435.1:n.235-881A>G | |
| ENST00000558939.5:c.235-881A>G | ENSP00000452871.1:n.235-881A>G | |
| ENST00000559048.5:c.253-881A>G | ENSP00000453760.1:n.253-881A>G | |
| ENST00000559191.5:c.-43-19520A>G | ENSP00000454029.1:n.-43-19520A>G | |
| ENST00000559929.5:c.235-881A>G | ENSP00000453081.1:n.235-881A>G | |
| ENST00000560525.5:c.456-881A>G | ||
| ENST00000560589.5:c.67-881A>G | ENSP00000454141.1:n.67-881A>G | |
| ENST00000560939.5:c.253-881A>G | ENSP00000452933.1:n.253-881A>G | |
| ENST00000560996.1:c.67-881A>G | ENSP00000457641.1:n.67-881A>G | |
| ENST00000561453.5:c.235-881A>G | ENSP00000453373.1:n.235-881A>G | |
| ENST00000627388.2:c.235-881A>G | ENSP00000485965.1:n.235-881A>G | |
| NM_001105192.2:c.235-881A>G | NP_001098662.1:n.235-881A>G | |
| NM_001282979.1:c.235-881A>G | NP_001269908.1:n.235-881A>G | |
| NM_001282980.1:c.235-881A>G | NP_001269909.1:n.235-881A>G | |
| NM_001282981.1:c.214-881A>G | NP_001269910.1:n.214-881A>G | |
| NM_001282982.1:c.37-881A>G | NP_001269911.1:n.37-881A>G | |
| NM_005078.3:c.235-881A>G | NP_005069.2:n.235-881A>G | |
| NM_020908.2:c.235-881A>G | NP_065959.1:n.235-881A>G | |
| XM_005254622.3:c.235-881A>G | XP_005254679.1:n.235-881A>G | |
| XM_005254623.2:c.235-881A>G | XP_005254680.1:n.235-881A>G | |
| XM_005254625.2:c.235-881A>G | XP_005254682.1:n.235-881A>G | |
| XM_005254628.2:c.235-881A>G | XP_005254685.1:n.235-881A>G | |
| XM_005254633.1:c.235-881A>G | XP_005254690.1:n.235-881A>G | |
| XM_006720665.2:c.235-881A>G | XP_006720728.1:n.235-881A>G | |
| XM_011521976.1:c.235-881A>G | XP_011520278.1:n.235-881A>G | |
| XM_011521977.1:c.235-881A>G | XP_011520279.1:n.235-881A>G | |
| XM_011521978.1:c.235-881A>G | XP_011520280.1:n.235-881A>G | |
| XM_011521979.1:c.67-881A>G | XP_011520281.1:n.67-881A>G | |
| XM_011521980.1:c.235-881A>G | XP_011520282.1:n.235-881A>G | |
| XM_011521981.1:c.235-881A>G | XP_011520283.1:n.235-881A>G | |
| XM_011521982.1:c.235-881A>G | XP_011520284.1:n.235-881A>G | |
| XM_011521983.1:c.235-881A>G | XP_011520285.1:n.235-881A>G | |
| XM_005254622.5:c.235-881A>G | XP_005254679.1:n.235-881A>G | |
| XM_005254623.4:c.235-881A>G | XP_005254680.1:n.235-881A>G | |
| XM_005254625.4:c.235-881A>G | XP_005254682.1:n.235-881A>G | |
| XM_005254628.4:c.235-881A>G | XP_005254685.1:n.235-881A>G | |
| XM_005254633.3:c.235-881A>G | XP_005254690.1:n.235-881A>G | |
| XM_006720665.4:c.235-881A>G | XP_006720728.1:n.235-881A>G | |
| XM_011521976.3:c.235-881A>G | XP_011520278.1:n.235-881A>G | |
| XM_011521977.3:c.235-881A>G | XP_011520279.1:n.235-881A>G | |
| XM_011521978.3:c.235-881A>G | XP_011520280.1:n.235-881A>G | |
| XM_011521979.3:c.67-881A>G | XP_011520281.1:n.67-881A>G | |
| XM_011521980.3:c.235-881A>G | XP_011520282.1:n.235-881A>G | |
| XM_011521981.2:c.235-881A>G | XP_011520283.1:n.235-881A>G | |
| XM_011521982.3:c.235-881A>G | XP_011520284.1:n.235-881A>G | |
| XM_011521983.3:c.235-881A>G | XP_011520285.1:n.235-881A>G | |
| XM_017022532.2:c.235-881A>G | XP_016878021.1:n.235-881A>G | |
| NM_001105192.3:c.235-881A>G MANE Select | NP_001098662.1:n.235-881A>G | |
| NM_001282979.2:c.235-881A>G | NP_001269908.1:n.235-881A>G | |
| NM_001282980.2:c.235-881A>G | NP_001269909.1:n.235-881A>G | |
| NM_001282982.2:c.37-881A>G | NP_001269911.1:n.37-881A>G | |
| NM_005078.4:c.235-881A>G | NP_005069.2:n.235-881A>G | |
| NM_020908.3:c.235-881A>G | NP_065959.1:n.235-881A>G | |
| NM_001282981.2:c.214-881A>G | NP_001269910.1:n.214-881A>G |