Linked Data
dbSNP Id:
rs168351
gnomAD v2:
9-75517311-A-G
gnomAD v3:
9-72902395-A-G
gnomAD v4:
9-72902395-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72902395A>G , CM000671.2:g.72902395A>G | GRCh38 |
| NC_000009.11:g.75517311A>G , CM000671.1:g.75517311A>G | GRCh37 |
| NC_000009.10:g.74707131A>G | NCBI36 |
| NG_012249.1:g.55659T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297785.8:c.1434-1115T>C MANE Select | ENSP00000297785.3:n.1434-1115T>C | |
| ENST00000297785.7:c.1434-1115T>C | ENSP00000297785.3:n.1434-1115T>C | |
| NM_000689.4:c.1434-1115T>C | NP_000680.2:n.1434-1115T>C | |
| NM_000689.5:c.1434-1115T>C MANE Select | NP_000680.2:n.1434-1115T>C |