Linked Data
dbSNP Id:
rs776091045
ExAC:
10:72517787 G / A
gnomAD v2:
10-72517787-G-A
gnomAD v3:
10-70758031-G-A
gnomAD v4:
10-70758031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758031G>A , CM000672.2:g.70758031G>A | GRCh38 |
| NC_000010.10:g.72517787G>A , CM000672.1:g.72517787G>A | GRCh37 |
| NC_000010.9:g.72187793G>A | NCBI36 |
| NG_042147.1:g.90229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.3007G>A MANE Select | ENSP00000362303.1:p.Gly1003Arg | |
| ENST00000373207.1:c.3007G>A | ENSP00000362303.1:p.Gly1003Arg | |
| ENST00000373208.5:c.3016G>A | ENSP00000362304.1:p.Gly1006Arg | |
| NM_080722.3:c.3007G>A | NP_542453.2:p.Gly1003Arg | |
| NM_139155.2:c.3016G>A | NP_631894.2:p.Gly1006Arg | |
| XM_011539300.1:c.2506G>A | XP_011537602.1:p.Gly836Arg | |
| XM_011539301.1:c.2080G>A | XP_011537603.1:p.Gly694Arg | |
| XM_011539302.1:c.2080G>A | XP_011537604.1:p.Gly694Arg | |
| XM_011539308.1:c.*86G>A | XP_011537610.1:n.*86G>A | |
| XM_011539309.1:c.1576G>A | XP_011537611.1:p.Gly526Arg | |
| NM_080722.4:c.3007G>A MANE Select | NP_542453.2:p.Gly1003Arg | |
| NM_139155.3:c.3016G>A | NP_631894.2:p.Gly1006Arg | |
| XM_011539300.2:c.2506G>A | XP_011537602.1:p.Gly836Arg | |
| XM_011539301.2:c.2080G>A | XP_011537603.1:p.Gly694Arg | |
| XM_011539302.2:c.2080G>A | XP_011537604.1:p.Gly694Arg | |
| XM_011539308.2:c.*86G>A | XP_011537610.1:n.*86G>A |