Linked Data
dbSNP Id:
rs754108948
ExAC:
4:4864631 G / C
gnomAD v2:
4-4864631-G-C
gnomAD v4:
4-4862904-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862904G>C , CM000666.2:g.4862904G>C | GRCh38 |
| NC_000004.11:g.4864631G>C , CM000666.1:g.4864631G>C | GRCh37 |
| NC_000004.10:g.4915532G>C | NCBI36 |
| NG_008121.1:g.8240G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.673G>C MANE Select | ENSP00000372170.4:p.Ala225Pro | |
| ENST00000382723.4:c.673G>C | ENSP00000372170.4:p.Ala225Pro | |
| ENST00000468421.1:n.385G>C | ||
| NM_002448.3:c.673G>C MANE Select | NP_002439.2:p.Ala225Pro |