Linked Data
ClinVar Variation Id:
908933
ClinVar RCV Id:
RCV001159714
dbSNP Id:
rs374717230
gnomAD v3:
8-132572238-A-C
gnomAD v4:
8-132572238-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572238A>C , CM000670.2:g.132572238A>C | GRCh38 |
| NC_000008.10:g.133584486A>C , CM000670.1:g.133584486A>C | GRCh37 |
| NC_000008.9:g.133653668A>C | NCBI36 |
| NG_033068.1:g.108378T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.*68T>G MANE Select | ENSP00000484634.1:n.*68T>G | |
| ENST00000250173.5:c.*333T>G | ENSP00000250173.2:n.*333T>G | |
| ENST00000518642.5:c.*333T>G | ENSP00000428610.1:n.*333T>G | |
| ENST00000519595.5:c.*68T>G | ENSP00000429791.1:n.*68T>G | |
| ENST00000522789.5:c.689T>G | ENSP00000428015.1:n.689T>G | |
| ENST00000618342.1:c.1469T>G | ENSP00000484802.1:n.1469T>G | |
| ENST00000620350.4:c.*68T>G | ENSP00000484634.1:n.*68T>G | |
| NM_012472.4:c.*68T>G | NP_036604.2:n.*68T>G | |
| NR_073525.1:n.1693T>G | ||
| XM_006716538.2:c.*68T>G | XP_006716601.2:n.*68T>G | |
| XM_011516950.1:c.*68T>G | XP_011515252.1:n.*68T>G | |
| XM_011516952.1:c.*68T>G | XP_011515254.1:n.*68T>G | |
| XM_011516953.1:c.*68T>G | XP_011515255.1:n.*68T>G | |
| XM_011516954.1:c.*68T>G | XP_011515256.1:n.*68T>G | |
| XR_428377.2:n.1721T>G | ||
| NM_001321961.1:c.*68T>G | NP_001308890.1:n.*68T>G | |
| NM_001321962.1:c.*68T>G | NP_001308891.1:n.*68T>G | |
| NM_001321963.1:c.*68T>G | NP_001308892.1:n.*68T>G | |
| NM_001321964.1:c.*68T>G | NP_001308893.1:n.*68T>G | |
| NM_001321965.1:c.*68T>G | NP_001308894.1:n.*68T>G | |
| NM_001321966.1:c.*68T>G | NP_001308895.1:n.*68T>G | |
| NM_012472.5:c.*68T>G | NP_036604.2:n.*68T>G | |
| NR_073525.2:n.1693T>G | ||
| NR_135905.1:n.1682T>G | ||
| NR_135906.1:n.1123T>G | ||
| NR_135907.1:n.1369T>G | ||
| NR_135908.1:n.1063T>G | ||
| NR_135909.1:n.1487T>G | ||
| NR_135910.1:n.1794T>G | ||
| NR_135911.1:n.1873T>G | ||
| NR_135912.1:n.2432T>G | ||
| NR_135913.1:n.2119T>G | ||
| XM_006716538.3:c.*68T>G | XP_006716601.2:n.*68T>G | |
| XM_011516950.2:c.*68T>G | XP_011515252.1:n.*68T>G | |
| XM_017013296.1:c.*68T>G | XP_016868785.1:n.*68T>G | |
| XM_017013297.1:c.*68T>G | XP_016868786.1:n.*68T>G | |
| XM_017013298.1:c.*68T>G | XP_016868787.1:n.*68T>G | |
| NM_012472.6:c.*68T>G MANE Select | NP_036604.2:n.*68T>G | |
| NM_001321961.2:c.*68T>G | NP_001308890.1:n.*68T>G | |
| NM_001321962.2:c.*68T>G | NP_001308891.1:n.*68T>G | |
| NM_001321963.2:c.*68T>G | NP_001308892.1:n.*68T>G | |
| NM_001321964.2:c.*68T>G | NP_001308893.1:n.*68T>G | |
| NM_001321965.2:c.*68T>G | NP_001308894.1:n.*68T>G | |
| NM_001321966.2:c.*68T>G | NP_001308895.1:n.*68T>G | |
| NR_073525.3:n.1621T>G | ||
| NR_135905.2:n.1610T>G | ||
| NR_135906.2:n.1051T>G | ||
| NR_135907.2:n.1297T>G | ||
| NR_135908.2:n.991T>G | ||
| NR_135909.2:n.1507T>G | ||
| NR_135910.2:n.1857T>G | ||
| NR_135911.2:n.1977T>G | ||
| NR_135912.2:n.2536T>G | ||
| NR_135913.2:n.2223T>G |