Linked Data
ClinVar Variation Id:
217574
dbSNP Id:
rs863225159
gnomAD v4:
5-37158258-C-T
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37158258C>T , CM000667.2:g.37158258C>T | GRCh38 |
| NC_000005.9:g.37158360C>T , CM000667.1:g.37158360C>T | GRCh37 |
| NC_000005.8:g.37194117C>T | NCBI36 |
| NG_032772.1:g.96171G>A | |
| NG_032772.2:g.96171G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.777G>A | ||
| ENST00000651892.2:c.7778G>A MANE Select | ENSP00000498265.2:p.Trp2593Ter | |
| ENST00000425232.6:c.7778G>A | ENSP00000389014.2:p.Trp2593Ter | |
| ENST00000508244.5:c.7778G>A | ENSP00000421690.1:p.Trp2593Ter | |
| ENST00000509849.5:c.4790G>A | ENSP00000426337.1:p.Trp1597Ter | |
| ENST00000509957.5:n.20G>A | ||
| ENST00000510830.1:n.278G>A | ||
| ENST00000511210.5:n.123G>A | ||
| ENST00000511824.2:c.850G>A | ||
| ENST00000514429.5:c.4922G>A | ENSP00000424223.1:p.Trp1641Ter | |
| NM_023073.3:c.7778G>A | NP_075561.3:p.Trp2593Ter | |
| XM_005248345.2:c.7778G>A | XP_005248402.1:p.Trp2593Ter | |
| XM_005248346.2:c.7775G>A | XP_005248403.1:p.Trp2592Ter | |
| XM_005248347.2:c.7775G>A | XP_005248404.1:p.Trp2592Ter | |
| XM_005248349.2:c.7775G>A | XP_005248406.1:p.Trp2592Ter | |
| XM_005248350.2:c.7649G>A | XP_005248407.1:p.Trp2550Ter | |
| XM_005248353.3:c.4421G>A | XP_005248410.1:p.Trp1474Ter | |
| XM_006714489.2:c.7778G>A | XP_006714552.1:p.Trp2593Ter | |
| XM_006714491.2:c.2351G>A | XP_006714554.1:p.Trp784Ter | |
| XM_011514085.1:c.7778G>A | XP_011512387.1:p.Trp2593Ter | |
| XM_011514086.1:c.7778G>A | XP_011512388.1:p.Trp2593Ter | |
| XM_011514087.1:c.7778G>A | XP_011512389.1:p.Trp2593Ter | |
| XM_011514088.1:c.7778G>A | XP_011512390.1:p.Trp2593Ter | |
| XM_011514089.1:c.7778G>A | XP_011512391.1:p.Trp2593Ter | |
| XM_011514090.1:c.7460G>A | XP_011512392.1:p.Trp2487Ter | |
| XM_011514091.1:c.7106G>A | XP_011512393.1:p.Trp2369Ter | |
| XM_011514092.1:c.7778G>A | XP_011512394.1:p.Trp2593Ter | |
| XM_011514094.1:c.5003G>A | XP_011512396.1:p.Trp1668Ter | |
| XR_427661.2:n.7953G>A | ||
| XR_925644.1:n.7953G>A | ||
| XM_005248345.4:c.7778G>A | XP_005248402.1:p.Trp2593Ter | |
| XM_005248346.4:c.7775G>A | XP_005248403.1:p.Trp2592Ter | |
| XM_005248347.4:c.7775G>A | XP_005248404.1:p.Trp2592Ter | |
| XM_005248349.4:c.7775G>A | XP_005248406.1:p.Trp2592Ter | |
| XM_005248350.4:c.7649G>A | XP_005248407.1:p.Trp2550Ter | |
| XM_006714491.3:c.2351G>A | XP_006714554.1:p.Trp784Ter | |
| XM_011514085.3:c.7778G>A | XP_011512387.1:p.Trp2593Ter | |
| XM_011514086.3:c.7778G>A | XP_011512388.1:p.Trp2593Ter | |
| XM_011514087.2:c.7778G>A | XP_011512389.1:p.Trp2593Ter | |
| XM_011514088.2:c.7778G>A | XP_011512390.1:p.Trp2593Ter | |
| XM_011514089.2:c.7778G>A | XP_011512391.1:p.Trp2593Ter | |
| XM_011514090.3:c.7460G>A | XP_011512392.1:p.Trp2487Ter | |
| XM_011514092.2:c.7778G>A | XP_011512394.1:p.Trp2593Ter | |
| XM_011514094.2:c.5003G>A | XP_011512396.1:p.Trp1668Ter | |
| XM_017009760.1:c.7589G>A | XP_016865249.1:p.Trp2530Ter | |
| XM_017009761.2:c.7589G>A | XP_016865250.1:p.Trp2530Ter | |
| XM_017009763.1:c.6785G>A | XP_016865252.1:p.Trp2262Ter | |
| XM_017009765.1:c.6590G>A | XP_016865254.1:p.Trp2197Ter | |
| XM_017009766.1:c.4421G>A | XP_016865255.1:p.Trp1474Ter | |
| XM_024446183.1:c.7589G>A | XP_024301951.1:p.Trp2530Ter | |
| XM_024446184.1:c.7460G>A | XP_024301952.1:p.Trp2487Ter | |
| XM_024446185.1:c.7106G>A | XP_024301953.1:p.Trp2369Ter | |
| XM_024446186.1:c.6785G>A | XP_024301954.1:p.Trp2262Ter | |
| XR_001742208.1:n.7947G>A | ||
| XR_002956171.1:n.7947G>A | ||
| XR_925644.2:n.8002G>A | ||
| NM_001384732.1:c.7778G>A MANE Select | NP_001371661.1:p.Trp2593Ter | |
| NM_023073.4:c.7778G>A | NP_075561.3:p.Trp2593Ter |