Linked Data
ClinVar Variation Id:
197422
dbSNP Id:
rs181611778
ExAC:
10:73538009 G / A
gnomAD v2:
10-73538009-G-A
gnomAD v3:
10-71778252-G-A
gnomAD v4:
10-71778252-G-A
COSMIC:
COSM2161132
ERepo:
CA245543/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71778252G>A , CM000672.2:g.71778252G>A | GRCh38 |
| NC_000010.10:g.73538009G>A , CM000672.1:g.73538009G>A | GRCh37 |
| NC_000010.9:g.73208015G>A | NCBI36 |
| NG_008835.1:g.386306G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5131G>A MANE Select | ENSP00000224721.9:p.Val1711Ile | |
| ENST00000224721.10:c.5146G>A | ENSP00000224721.8:p.Val1716Ile | |
| ENST00000622827.4:c.5131G>A | ENSP00000483211.1:p.Val1711Ile | |
| NM_022124.5:c.5131G>A | NP_071407.4:p.Val1711Ile | |
| XM_006717940.2:c.5326G>A | XP_006718003.1:p.Val1776Ile | |
| XM_006717942.2:c.5260G>A | XP_006718005.1:p.Val1754Ile | |
| XM_011540039.1:c.5323G>A | XP_011538341.1:p.Val1775Ile | |
| XM_011540040.1:c.5320G>A | XP_011538342.1:p.Val1774Ile | |
| XM_011540041.1:c.5266G>A | XP_011538343.1:p.Val1756Ile | |
| XM_011540042.1:c.5326G>A | XP_011538344.1:p.Val1776Ile | |
| XM_011540043.1:c.5326G>A | XP_011538345.1:p.Val1776Ile | |
| XM_011540044.1:c.5191G>A | XP_011538346.1:p.Val1731Ile | |
| XM_011540045.1:c.5326G>A | XP_011538347.1:p.Val1776Ile | |
| XM_011540046.1:c.4786G>A | XP_011538348.1:p.Val1596Ile | |
| XM_011540047.1:c.4144G>A | XP_011538349.1:p.Val1382Ile | |
| XM_011540048.1:c.5326G>A | XP_011538350.1:p.Val1776Ile | |
| XM_011540049.1:c.5326G>A | XP_011538351.1:p.Val1776Ile | |
| XM_011540050.1:c.5326G>A | XP_011538352.1:p.Val1776Ile | |
| XM_011540051.1:c.5326G>A | XP_011538353.1:p.Val1776Ile | |
| XM_011540052.1:c.1654G>A | XP_011538354.1:p.Val552Ile | |
| XM_011540053.1:c.5326G>A | XP_011538355.1:p.Val1776Ile | |
| XR_945796.1:n.5569G>A | ||
| NM_022124.6:c.5131G>A MANE Select | NP_071407.4:p.Val1711Ile |