Linked Data
dbSNP Id:
rs12344615
gnomAD v2:
9-86281195-A-G
gnomAD v3:
9-83666280-A-G
gnomAD v4:
9-83666280-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.83666280A>G , CM000671.2:g.83666280A>G | GRCh38 |
| NC_000009.11:g.86281195A>G , CM000671.1:g.86281195A>G | GRCh37 |
| NC_000009.10:g.85471015A>G | NCBI36 |
| NG_011519.1:g.46974T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376395.9:c.1332+70T>C MANE Select | ENSP00000365576.4:n.1332+70T>C | |
| ENST00000257468.11:c.1249-1135T>C | ENSP00000257468.7:n.1249-1135T>C | |
| ENST00000376395.8:c.1332+70T>C | ENSP00000365576.4:n.1332+70T>C | |
| ENST00000526134.1:c.152+70T>C | ||
| ENST00000533705.5:n.3801+70T>C | ||
| NM_013438.4:c.1332+70T>C | NP_038466.2:n.1332+70T>C | |
| NM_053067.2:c.1249-1135T>C | NP_444295.1:n.1249-1135T>C | |
| NM_013438.5:c.1332+70T>C MANE Select | NP_038466.2:n.1332+70T>C | |
| NM_053067.3:c.1249-1135T>C | NP_444295.1:n.1249-1135T>C |