Linked Data
ClinVar Variation Id:
353407
dbSNP Id:
rs556117030
gnomAD v2:
5-37107186-A-G
gnomAD v3:
5-37107084-A-G
gnomAD v4:
5-37107084-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37107084A>G , CM000667.2:g.37107084A>G | GRCh38 |
| NC_000005.9:g.37107186A>G , CM000667.1:g.37107186A>G | GRCh37 |
| NC_000005.8:g.37142943A>G | NCBI36 |
| NG_032772.1:g.147345T>C | |
| NG_032772.2:g.147345T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651892.2:c.*518T>C MANE Select | ENSP00000498265.2:n.*518T>C | |
| ENST00000676160.1:n.2780T>C | ||
| ENST00000425232.6:c.*518T>C | ENSP00000389014.2:n.*518T>C | |
| ENST00000508244.5:c.*518T>C | ENSP00000421690.1:n.*518T>C | |
| ENST00000509849.5:c.7286T>C | ENSP00000426337.1:n.7286T>C | |
| ENST00000514429.5:c.7310T>C | ENSP00000424223.1:n.7310T>C | |
| NM_023073.3:c.*518T>C | NP_075561.3:n.*518T>C | |
| XM_005248345.2:c.*518T>C | XP_005248402.1:n.*518T>C | |
| XM_005248346.2:c.*518T>C | XP_005248403.1:n.*518T>C | |
| XM_005248347.2:c.*518T>C | XP_005248404.1:n.*518T>C | |
| XM_005248349.2:c.*518T>C | XP_005248406.1:n.*518T>C | |
| XM_005248350.2:c.*518T>C | XP_005248407.1:n.*518T>C | |
| XM_005248353.3:c.*518T>C | XP_005248410.1:n.*518T>C | |
| XM_006714489.2:c.*518T>C | XP_006714552.1:n.*518T>C | |
| XM_006714491.2:c.*518T>C | XP_006714554.1:n.*518T>C | |
| XM_011514085.1:c.*518T>C | XP_011512387.1:n.*518T>C | |
| XM_011514086.1:c.*518T>C | XP_011512388.1:n.*518T>C | |
| XM_011514087.1:c.*518T>C | XP_011512389.1:n.*518T>C | |
| XM_011514088.1:c.*518T>C | XP_011512390.1:n.*518T>C | |
| XM_011514089.1:c.9579+1209T>C | XP_011512391.1:n.9579+1209T>C | |
| XM_011514090.1:c.*518T>C | XP_011512392.1:n.*518T>C | |
| XM_011514091.1:c.*518T>C | XP_011512393.1:n.*518T>C | |
| XM_011514094.1:c.*518T>C | XP_011512396.1:n.*518T>C | |
| XR_427661.2:n.9754+1209T>C | ||
| XR_925644.1:n.9754+1209T>C | ||
| XM_005248345.4:c.*518T>C | XP_005248402.1:n.*518T>C | |
| XM_005248346.4:c.*518T>C | XP_005248403.1:n.*518T>C | |
| XM_005248347.4:c.*518T>C | XP_005248404.1:n.*518T>C | |
| XM_005248349.4:c.*518T>C | XP_005248406.1:n.*518T>C | |
| XM_005248350.4:c.*518T>C | XP_005248407.1:n.*518T>C | |
| XM_006714491.3:c.*518T>C | XP_006714554.1:n.*518T>C | |
| XM_011514085.3:c.*518T>C | XP_011512387.1:n.*518T>C | |
| XM_011514086.3:c.*518T>C | XP_011512388.1:n.*518T>C | |
| XM_011514087.2:c.*518T>C | XP_011512389.1:n.*518T>C | |
| XM_011514088.2:c.*518T>C | XP_011512390.1:n.*518T>C | |
| XM_011514089.2:c.9579+1209T>C | XP_011512391.1:n.9579+1209T>C | |
| XM_011514090.3:c.*518T>C | XP_011512392.1:n.*518T>C | |
| XM_011514094.2:c.*518T>C | XP_011512396.1:n.*518T>C | |
| XM_017009760.1:c.*518T>C | XP_016865249.1:n.*518T>C | |
| XM_017009761.2:c.*518T>C | XP_016865250.1:n.*518T>C | |
| XM_017009763.1:c.*518T>C | XP_016865252.1:n.*518T>C | |
| XM_017009765.1:c.*518T>C | XP_016865254.1:n.*518T>C | |
| XM_017009766.1:c.*518T>C | XP_016865255.1:n.*518T>C | |
| XM_024446183.1:c.*518T>C | XP_024301951.1:n.*518T>C | |
| XM_024446184.1:c.*518T>C | XP_024301952.1:n.*518T>C | |
| XM_024446185.1:c.*518T>C | XP_024301953.1:n.*518T>C | |
| XM_024446186.1:c.*518T>C | XP_024301954.1:n.*518T>C | |
| XR_925644.2:n.9803+1209T>C | ||
| NM_001384732.1:c.*518T>C MANE Select | NP_001371661.1:n.*518T>C | |
| NM_023073.4:c.*518T>C | NP_075561.3:n.*518T>C |