Linked Data
dbSNP Id:
rs10980926
gnomAD v2:
9-114293634-A-G
gnomAD v3:
9-111531354-A-G
gnomAD v4:
9-111531354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.111531354A>G , CM000671.2:g.111531354A>G | GRCh38 |
| NC_000009.11:g.114293634A>G , CM000671.1:g.114293634A>G | GRCh37 |
| NC_000009.10:g.113333455A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309235.6:c.501+391A>G MANE Select | ENSP00000311679.5:n.501+391A>G | |
| ENST00000309235.5:c.501+391A>G | ENSP00000311679.5:n.501+391A>G | |
| ENST00000355824.7:c.501+391A>G | ENSP00000438048.1:n.501+391A>G | |
| ENST00000358151.8:c.501+391A>G | ENSP00000350871.4:n.501+391A>G | |
| NM_001007169.3:c.501+391A>G | NP_001007170.1:n.501+391A>G | |
| NM_133464.3:c.501+391A>G | NP_597721.2:n.501+391A>G | |
| XM_011518299.1:c.501+391A>G | XP_011516601.1:n.501+391A>G | |
| XM_011518300.1:c.501+391A>G | XP_011516602.1:n.501+391A>G | |
| XM_011518301.1:c.33+391A>G | XP_011516603.1:n.33+391A>G | |
| NM_001007169.4:c.501+391A>G | NP_001007170.1:n.501+391A>G | |
| NM_133464.4:c.501+391A>G | NP_597721.2:n.501+391A>G | |
| XM_011518300.2:c.501+391A>G | XP_011516602.1:n.501+391A>G | |
| XM_017014337.1:c.501+391A>G | XP_016869826.1:n.501+391A>G | |
| XM_017014338.1:c.501+391A>G | XP_016869827.1:n.501+391A>G | |
| XM_017014339.1:c.501+391A>G | XP_016869828.1:n.501+391A>G | |
| NM_001007169.5:c.501+391A>G | NP_001007170.1:n.501+391A>G | |
| NM_133464.5:c.501+391A>G MANE Select | NP_597721.2:n.501+391A>G | |
| NM_001007169.6:c.501+391A>G | NP_001007170.1:n.501+391A>G |