Linked Data
dbSNP Id:
rs766678124
ExAC:
17:41832778 C / T
gnomAD v2:
17-41832778-C-T
gnomAD v4:
17-43755410-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755410C>T , CM000679.2:g.43755410C>T | GRCh38 |
| NC_000017.10:g.41832778C>T , CM000679.1:g.41832778C>T | GRCh37 |
| NC_000017.9:g.39188304C>T | NCBI36 |
| NG_008078.2:g.8379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.574G>A MANE Select | ENSP00000301691.1:p.Gly192Ser | |
| ENST00000301691.2:c.574G>A | ENSP00000301691.1:p.Gly192Ser | |
| NM_025237.2:c.574G>A | NP_079513.1:p.Gly192Ser | |
| NM_025237.3:c.574G>A MANE Select | NP_079513.1:p.Gly192Ser |