Linked Data
dbSNP Id:
rs1052893214
gnomAD v2:
5-110081889-T-A
gnomAD v3:
5-110746188-T-A
gnomAD v4:
5-110746188-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110746188T>A , CM000667.2:g.110746188T>A | GRCh38 |
| NC_000005.9:g.110081889T>A , CM000667.1:g.110081889T>A | GRCh37 |
| NC_000005.8:g.110109788T>A | NCBI36 |
| NG_051334.1:g.13053T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355943.8:c.385-81T>A MANE Select | ENSP00000348211.3:n.385-81T>A | |
| ENST00000355943.7:c.385-81T>A | ENSP00000348211.3:n.385-81T>A | |
| ENST00000447245.6:c.385-81T>A | ENSP00000399717.2:n.385-81T>A | |
| ENST00000502462.6:n.620T>A | ||
| ENST00000504098.1:c.-54-81T>A | ENSP00000425708.1:n.-54-81T>A | |
| ENST00000508781.5:n.214-81T>A | ||
| ENST00000513807.5:c.-102-81T>A | ENSP00000421134.1:n.-102-81T>A | |
| NM_001303249.1:c.385-81T>A | NP_001290178.1:n.385-81T>A | |
| NM_001303250.1:c.112-81T>A | NP_001290179.1:n.112-81T>A | |
| NM_138773.2:c.385-81T>A | NP_620128.1:n.385-81T>A | |
| XM_011543708.1:c.385-81T>A | XP_011542010.1:n.385-81T>A | |
| NM_001303249.2:c.385-81T>A | NP_001290178.1:n.385-81T>A | |
| NM_001303250.2:c.112-81T>A | NP_001290179.1:n.112-81T>A | |
| NM_138773.3:c.385-81T>A | NP_620128.1:n.385-81T>A | |
| NR_138151.1:n.533-81T>A | ||
| NM_138773.4:c.385-81T>A MANE Select | NP_620128.1:n.385-81T>A | |
| NM_001303249.3:c.385-81T>A | NP_001290178.1:n.385-81T>A | |
| NM_001303250.3:c.112-81T>A | NP_001290179.1:n.112-81T>A | |
| NR_138151.2:n.498-81T>A |