Linked Data
dbSNP Id:
rs6807362
ExAC:
3:183778010 G / C
gnomAD v2:
3-183778010-G-C
gnomAD v3:
3-184060222-G-C
gnomAD v4:
3-184060222-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060222G>C , CM000665.2:g.184060222G>C | GRCh38 |
| NC_000003.11:g.183778010G>C , CM000665.1:g.183778010G>C | GRCh37 |
| NC_000003.10:g.185260704G>C | NCBI36 |
| NG_012749.1:g.12176G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318351.2:c.1214G>C MANE Select | ENSP00000322617.1:p.Gly405Ala | |
| ENST00000318351.1:c.1214G>C | ENSP00000322617.1:p.Gly405Ala | |
| NM_130770.2:c.1214G>C | NP_570126.2:p.Gly405Ala | |
| NM_130770.3:c.1214G>C MANE Select | NP_570126.2:p.Gly405Ala |