Linked Data
dbSNP Id:
rs768706642
ExAC:
17:7915586 G / C
gnomAD v2:
17-7915586-G-C
gnomAD v4:
17-8012268-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012268G>C , CM000679.2:g.8012268G>C | GRCh38 |
| NC_000017.10:g.7915586G>C , CM000679.1:g.7915586G>C | GRCh37 |
| NC_000017.9:g.7856311G>C | NCBI36 |
| NG_009092.1:g.14599G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1874G>C MANE Select | ENSP00000254854.4:p.Gly625Ala | |
| ENST00000254854.4:c.1874G>C | ENSP00000254854.4:p.Gly625Ala | |
| NM_000180.3:c.1874G>C | NP_000171.1:p.Gly625Ala | |
| XM_011523816.1:c.1874G>C | XP_011522118.1:p.Gly625Ala | |
| NM_000180.4:c.1874G>C MANE Select | NP_000171.1:p.Gly625Ala |