Linked Data
dbSNP Id:
rs760971779
ExAC:
17:41832765 C / T
gnomAD v2:
17-41832765-C-T
gnomAD v4:
17-43755397-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755397C>T , CM000679.2:g.43755397C>T | GRCh38 |
| NC_000017.10:g.41832765C>T , CM000679.1:g.41832765C>T | GRCh37 |
| NC_000017.9:g.39188291C>T | NCBI36 |
| NG_008078.2:g.8392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.587G>A MANE Select | ENSP00000301691.1:p.Arg196Gln | |
| ENST00000301691.2:c.587G>A | ENSP00000301691.1:p.Arg196Gln | |
| NM_025237.2:c.587G>A | NP_079513.1:p.Arg196Gln | |
| NM_025237.3:c.587G>A MANE Select | NP_079513.1:p.Arg196Gln |