Linked Data
dbSNP Id:
rs771254426
ExAC:
10:72517761 T / G
gnomAD v2:
10-72517761-T-G
gnomAD v3:
10-70758005-T-G
gnomAD v4:
10-70758005-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758005T>G , CM000672.2:g.70758005T>G | GRCh38 |
| NC_000010.10:g.72517761T>G , CM000672.1:g.72517761T>G | GRCh37 |
| NC_000010.9:g.72187767T>G | NCBI36 |
| NG_042147.1:g.90203T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.2981T>G MANE Select | ENSP00000362303.1:p.Val994Gly | |
| ENST00000373207.1:c.2981T>G | ENSP00000362303.1:p.Val994Gly | |
| ENST00000373208.5:c.2990T>G | ENSP00000362304.1:p.Val997Gly | |
| NM_080722.3:c.2981T>G | NP_542453.2:p.Val994Gly | |
| NM_139155.2:c.2990T>G | NP_631894.2:p.Val997Gly | |
| XM_011539300.1:c.2480T>G | XP_011537602.1:p.Val827Gly | |
| XM_011539301.1:c.2054T>G | XP_011537603.1:p.Val685Gly | |
| XM_011539302.1:c.2054T>G | XP_011537604.1:p.Val685Gly | |
| XM_011539308.1:c.*60T>G | XP_011537610.1:n.*60T>G | |
| XM_011539309.1:c.1550T>G | XP_011537611.1:p.Val517Gly | |
| NM_080722.4:c.2981T>G MANE Select | NP_542453.2:p.Val994Gly | |
| NM_139155.3:c.2990T>G | NP_631894.2:p.Val997Gly | |
| XM_011539300.2:c.2480T>G | XP_011537602.1:p.Val827Gly | |
| XM_011539301.2:c.2054T>G | XP_011537603.1:p.Val685Gly | |
| XM_011539302.2:c.2054T>G | XP_011537604.1:p.Val685Gly | |
| XM_011539308.2:c.*60T>G | XP_011537610.1:n.*60T>G |