Linked Data
dbSNP Id:
rs749294662
ExAC:
17:62022856 G / C
gnomAD v2:
17-62022856-G-C
gnomAD v4:
17-63945496-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63945496G>C , CM000679.2:g.63945496G>C | GRCh38 |
| NC_000017.10:g.62022856G>C , CM000679.1:g.62022856G>C | GRCh37 |
| NC_000017.9:g.59376588G>C | NCBI36 |
| NG_011699.1:g.32423C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3584C>G MANE Select | ENSP00000396320.1:p.Ser1195Cys | |
| ENST00000578147.5:c.3584C>G | ENSP00000463963.1:p.Ser1195Cys | |
| NM_000334.4:c.3584C>G MANE Select | NP_000325.4:p.Ser1195Cys | |
| XM_005257566.3:c.3584C>G | XP_005257623.1:p.Ser1195Cys |