Linked Data
ClinVar Variation Id:
408221
dbSNP Id:
rs144008013
ExAC:
14:45665603 G / A
gnomAD v2:
14-45665603-G-A
gnomAD v3:
14-45196400-G-A
gnomAD v4:
14-45196400-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45196400G>A , CM000676.2:g.45196400G>A | GRCh38 |
| NC_000014.8:g.45665603G>A , CM000676.1:g.45665603G>A | GRCh37 |
| NC_000014.7:g.44735353G>A | NCBI36 |
| NG_007417.1:g.65468G>A , LRG_502:g.65468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.3886G>A | ENSP00000450632.2:p.Val1296Met | |
| ENST00000555484.2:c.1347G>A | ||
| ENST00000556250.6:c.5362G>A | ENSP00000452033.2:p.Val1788Met | |
| ENST00000557110.2:c.1347G>A | ||
| ENST00000696645.1:n.1459G>A | ||
| ENST00000696647.1:c.5341-2244G>A | ENSP00000512778.1:n.5341-2244G>A | |
| ENST00000696648.1:c.*3594G>A | ENSP00000512779.1:n.*3594G>A | |
| ENST00000696649.1:c.5413G>A | ENSP00000512780.1:p.Val1805Met | |
| ENST00000696651.1:n.2009G>A | ||
| ENST00000696659.1:c.3339-2244G>A | ||
| ENST00000696663.1:c.4500G>A | ||
| ENST00000696664.1:c.4401G>A | ||
| ENST00000696665.1:c.1347G>A | ||
| ENST00000696675.1:c.*1325G>A | ENSP00000512799.1:n.*1325G>A | |
| ENST00000696683.1:c.4197G>A | ||
| ENST00000696684.1:c.4158-3470G>A | ||
| ENST00000696685.1:c.4386G>A | ||
| ENST00000696686.1:n.2306G>A | ||
| ENST00000267430.10:c.5569G>A MANE Select | ENSP00000267430.5:p.Val1857Met | |
| ENST00000267430.9:c.5569G>A | ENSP00000267430.5:p.Val1857Met | |
| ENST00000542564.6:c.5491G>A | ENSP00000442493.2:p.Val1831Met | |
| ENST00000554809.5:c.2471G>A | ||
| ENST00000556250.5:c.4117G>A | ENSP00000452033.1:p.Val1373Met | |
| ENST00000557110.1:c.229G>A | ENSP00000451846.1:p.Val77Met | |
| NM_001308133.1:c.5491G>A | NP_001295062.1:p.Val1831Met | |
| NM_020937.2:c.5569G>A , LRG_502t1:c.5569G>A | NP_065988.1:p.Val1857Met | |
| NM_020937.3:c.5569G>A | NP_065988.1:p.Val1857Met | |
| XM_011537034.1:c.5584G>A | XP_011535336.1:p.Val1862Met | |
| XM_011537035.1:c.5506G>A | XP_011535337.1:p.Val1836Met | |
| XM_011537036.1:c.5356-2244G>A | XP_011535338.1:n.5356-2244G>A | |
| XM_011537037.1:c.3598G>A | XP_011535339.1:p.Val1200Met | |
| XM_011537034.2:c.5584G>A | XP_011535336.1:p.Val1862Met | |
| XM_011537035.3:c.5506G>A | XP_011535337.1:p.Val1836Met | |
| XM_011537037.3:c.3598G>A | XP_011535339.1:p.Val1200Met | |
| XM_017021523.1:c.5356-3470G>A | XP_016877012.1:n.5356-3470G>A | |
| XM_017021524.2:c.4621G>A | XP_016877013.1:p.Val1541Met | |
| XM_017021525.2:c.4399G>A | XP_016877014.1:p.Val1467Met | |
| XM_017021526.2:c.4399G>A | XP_016877015.1:p.Val1467Met | |
| XM_017021527.1:c.4384G>A | XP_016877016.1:p.Val1462Met | |
| XR_001750470.1:n.5448-2244G>A | ||
| XR_001750471.2:n.5433-2244G>A | ||
| NM_020937.4:c.5569G>A MANE Select | NP_065988.1:p.Val1857Met | |
| NM_001308133.2:c.5491G>A | NP_001295062.1:p.Val1831Met |