Linked Data
dbSNP Id:
rs755936587
ExAC:
21:45876674 C / T
gnomAD v2:
21-45876674-C-T
gnomAD v4:
21-44456791-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456791C>T , CM000683.2:g.44456791C>T | GRCh38 |
| NC_000021.8:g.45876674C>T , CM000683.1:g.45876674C>T | GRCh37 |
| NC_000021.7:g.44701102C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.147C>T MANE Select | ENSP00000291592.4:p.Phe49= | |
| ENST00000291592.5:c.147C>T | ENSP00000291592.4:p.Phe49= | |
| NM_030891.4:c.147C>T | NP_112153.1:p.Phe49= | |
| NM_030891.5:c.147C>T | NP_112153.1:p.Phe49= | |
| NM_030891.6:c.147C>T MANE Select | NP_112153.1:p.Phe49= |