Linked Data
dbSNP Id:
rs1036872726
gnomAD v2:
9-75435907-G-A
gnomAD v3:
9-72820991-G-A
gnomAD v4:
9-72820991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820991G>A , CM000671.2:g.72820991G>A | GRCh38 |
| NC_000009.11:g.75435907G>A , CM000671.1:g.75435907G>A | GRCh37 |
| NC_000009.10:g.74625727G>A | NCBI36 |
| NG_008213.1:g.304191G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1913G>A MANE Select | ENSP00000297784.6:p.Gly638Asp | |
| ENST00000644967.1:c.*353G>A | ENSP00000496159.1:n.*353G>A | |
| ENST00000645053.1:c.1258-5878G>A | ENSP00000493838.1:n.1258-5878G>A | |
| ENST00000645208.2:c.1913G>A | ENSP00000494684.1:p.Gly638Asp | |
| ENST00000645773.1:c.1787G>A | ENSP00000493698.1:p.Gly596Asp | |
| ENST00000645787.1:n.2056G>A | ||
| ENST00000646619.1:c.1475G>A | ENSP00000493726.1:p.Gly492Asp | |
| ENST00000651183.1:c.1475G>A | ENSP00000498723.1:p.Gly492Asp | |
| ENST00000297784.9:c.1913G>A | ENSP00000297784.5:p.Gly638Asp | |
| ENST00000340019.4:c.1913G>A | ENSP00000341433.3:p.Gly638Asp | |
| ENST00000469455.1:n.394G>A | ||
| ENST00000486417.5:n.811G>A | ||
| NM_138691.2:c.1913G>A | NP_619636.2:p.Gly638Asp | |
| XM_011518213.1:c.2501G>A | XP_011516515.1:p.Gly834Asp | |
| XM_017014256.1:c.1916G>A | XP_016869745.1:p.Gly639Asp | |
| NM_138691.3:c.1913G>A MANE Select | NP_619636.2:p.Gly638Asp |