Linked Data
dbSNP Id:
rs267602565
gnomAD v2:
10-72517802-G-T
gnomAD v3:
10-70758046-G-T
gnomAD v4:
10-70758046-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758046G>T , CM000672.2:g.70758046G>T | GRCh38 |
| NC_000010.10:g.72517802G>T , CM000672.1:g.72517802G>T | GRCh37 |
| NC_000010.9:g.72187808G>T | NCBI36 |
| NG_042147.1:g.90244G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.3022G>T MANE Select | ENSP00000362303.1:p.Asp1008Tyr | |
| ENST00000373207.1:c.3022G>T | ENSP00000362303.1:p.Asp1008Tyr | |
| ENST00000373208.5:c.3031G>T | ENSP00000362304.1:p.Asp1011Tyr | |
| NM_080722.3:c.3022G>T | NP_542453.2:p.Asp1008Tyr | |
| NM_139155.2:c.3031G>T | NP_631894.2:p.Asp1011Tyr | |
| XM_011539300.1:c.2521G>T | XP_011537602.1:p.Asp841Tyr | |
| XM_011539301.1:c.2095G>T | XP_011537603.1:p.Asp699Tyr | |
| XM_011539302.1:c.2095G>T | XP_011537604.1:p.Asp699Tyr | |
| XM_011539309.1:c.1591G>T | XP_011537611.1:p.Asp531Tyr | |
| NM_080722.4:c.3022G>T MANE Select | NP_542453.2:p.Asp1008Tyr | |
| NM_139155.3:c.3031G>T | NP_631894.2:p.Asp1011Tyr | |
| XM_011539300.2:c.2521G>T | XP_011537602.1:p.Asp841Tyr | |
| XM_011539301.2:c.2095G>T | XP_011537603.1:p.Asp699Tyr | |
| XM_011539302.2:c.2095G>T | XP_011537604.1:p.Asp699Tyr |