Linked Data
dbSNP Id:
rs888367421
gnomAD v2:
2-219925213-C-T
gnomAD v3:
2-219060491-C-T
gnomAD v4:
2-219060491-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060491C>T , CM000664.2:g.219060491C>T | GRCh38 |
| NC_000002.11:g.219925213C>T , CM000664.1:g.219925213C>T | GRCh37 |
| NC_000002.10:g.219633457C>T | NCBI36 |
| NG_016741.1:g.5026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-24G>A MANE Select | ENSP00000295731.5:n.-24G>A | |
| NM_002181.3:c.-24G>A | NP_002172.2:n.-24G>A | |
| NM_002181.4:c.-24G>A MANE Select | NP_002172.2:n.-24G>A |