Linked Data
dbSNP Id:
rs202127280
ExAC:
10:72517752 G / A
gnomAD v2:
10-72517752-G-A
gnomAD v3:
10-70757996-G-A
gnomAD v4:
10-70757996-G-A
COSMIC:
COSM2160616
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70757996G>A , CM000672.2:g.70757996G>A | GRCh38 |
| NC_000010.10:g.72517752G>A , CM000672.1:g.72517752G>A | GRCh37 |
| NC_000010.9:g.72187758G>A | NCBI36 |
| NG_042147.1:g.90194G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.2972G>A MANE Select | ENSP00000362303.1:p.Arg991Gln | |
| ENST00000373207.1:c.2972G>A | ENSP00000362303.1:p.Arg991Gln | |
| ENST00000373208.5:c.2981G>A | ENSP00000362304.1:p.Arg994Gln | |
| NM_080722.3:c.2972G>A | NP_542453.2:p.Arg991Gln | |
| NM_139155.2:c.2981G>A | NP_631894.2:p.Arg994Gln | |
| XM_011539300.1:c.2471G>A | XP_011537602.1:p.Arg824Gln | |
| XM_011539301.1:c.2045G>A | XP_011537603.1:p.Arg682Gln | |
| XM_011539302.1:c.2045G>A | XP_011537604.1:p.Arg682Gln | |
| XM_011539308.1:c.*51G>A | XP_011537610.1:n.*51G>A | |
| XM_011539309.1:c.1541G>A | XP_011537611.1:p.Arg514Gln | |
| NM_080722.4:c.2972G>A MANE Select | NP_542453.2:p.Arg991Gln | |
| NM_139155.3:c.2981G>A | NP_631894.2:p.Arg994Gln | |
| XM_011539300.2:c.2471G>A | XP_011537602.1:p.Arg824Gln | |
| XM_011539301.2:c.2045G>A | XP_011537603.1:p.Arg682Gln | |
| XM_011539302.2:c.2045G>A | XP_011537604.1:p.Arg682Gln | |
| XM_011539308.2:c.*51G>A | XP_011537610.1:n.*51G>A |