Linked Data
dbSNP Id:
rs1458521682
gnomAD v2:
9-94486091-A-C
gnomAD v3:
9-91723809-A-C
gnomAD v4:
9-91723809-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91723809A>C , CM000671.2:g.91723809A>C | GRCh38 |
| NC_000009.11:g.94486091A>C , CM000671.1:g.94486091A>C | GRCh37 |
| NC_000009.10:g.93525912A>C | NCBI36 |
| NG_008089.1:g.231354T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2685T>G MANE Select | ENSP00000364860.3:p.Asp895Glu | |
| ENST00000375708.3:c.2685T>G | ENSP00000364860.3:p.Asp895Glu | |
| ENST00000375715.5:c.1920+345T>G | ENSP00000364867.1:n.1920+345T>G | |
| ENST00000550066.5:n.3153T>G | ||
| NM_004560.3:c.2685T>G | NP_004551.2:p.Asp895Glu | |
| XM_005252008.3:c.2265T>G | XP_005252065.1:p.Asp755Glu | |
| XM_005252009.3:c.1482T>G | XP_005252066.1:p.Asp494Glu | |
| XM_006717121.2:c.2265T>G | XP_006717184.1:p.Asp755Glu | |
| XM_011518721.1:c.2265T>G | XP_011517023.1:p.Asp755Glu | |
| XM_005252008.4:c.2265T>G | XP_005252065.1:p.Asp755Glu | |
| XM_006717121.3:c.2265T>G | XP_006717184.1:p.Asp755Glu | |
| XM_017014762.1:c.2676T>G | XP_016870251.1:p.Asp892Glu | |
| XM_017014763.1:c.2265T>G | XP_016870252.1:p.Asp755Glu | |
| NM_004560.4:c.2685T>G MANE Select | NP_004551.2:p.Asp895Glu |