Linked Data
dbSNP Id:
rs425105
gnomAD v2:
19-47208481-T-C
gnomAD v3:
19-46705224-T-C
gnomAD v4:
19-46705224-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46705224T>C , CM000681.2:g.46705224T>C | GRCh38 |
| NC_000019.9:g.47208481T>C , CM000681.1:g.47208481T>C | GRCh37 |
| NC_000019.8:g.51900321T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291281.9:c.512-575A>G MANE Select | ENSP00000291281.3:n.512-575A>G | |
| ENST00000291281.8:c.512-575A>G | ENSP00000291281.3:n.512-575A>G | |
| ENST00000433867.5:c.512-575A>G | ENSP00000393978.1:n.512-575A>G | |
| ENST00000595132.5:c.41-575A>G | ENSP00000470363.1:n.41-575A>G | |
| ENST00000595515.5:c.512-575A>G | ENSP00000470804.1:n.512-575A>G | |
| ENST00000597641.1:c.247-575A>G | ENSP00000469064.1:n.247-575A>G | |
| ENST00000598633.1:c.41-575A>G | ENSP00000470919.1:n.41-575A>G | |
| ENST00000600194.5:c.41-575A>G | ENSP00000472744.1:n.41-575A>G | |
| ENST00000601605.5:c.41-4112A>G | ENSP00000470442.1:n.41-4112A>G | |
| ENST00000601806.5:c.41-575A>G | ENSP00000469106.1:n.41-575A>G | |
| NM_001079880.1:c.512-575A>G | NP_001073349.1:n.512-575A>G | |
| NM_001079881.1:c.512-575A>G | NP_001073350.1:n.512-575A>G | |
| NM_001079882.1:c.41-575A>G | NP_001073351.1:n.41-575A>G | |
| NM_016457.4:c.512-575A>G | NP_057541.2:n.512-575A>G | |
| XM_005258716.2:c.41-575A>G | XP_005258773.2:n.41-575A>G | |
| NM_001079880.2:c.512-575A>G | NP_001073349.1:n.512-575A>G | |
| NM_001079881.2:c.512-575A>G | NP_001073350.1:n.512-575A>G | |
| NM_001079882.2:c.41-575A>G | NP_001073351.1:n.41-575A>G | |
| NM_016457.5:c.512-575A>G MANE Select | NP_057541.2:n.512-575A>G |