Linked Data
dbSNP Id:
rs767644132
ExAC:
17:41832760 G / C
gnomAD v2:
17-41832760-G-C
gnomAD v3:
17-43755392-G-C
gnomAD v4:
17-43755392-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755392G>C , CM000679.2:g.43755392G>C | GRCh38 |
| NC_000017.10:g.41832760G>C , CM000679.1:g.41832760G>C | GRCh37 |
| NC_000017.9:g.39188286G>C | NCBI36 |
| NG_008078.2:g.8397C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.592C>G MANE Select | ENSP00000301691.1:p.Arg198Gly | |
| ENST00000301691.2:c.592C>G | ENSP00000301691.1:p.Arg198Gly | |
| NM_025237.2:c.592C>G | NP_079513.1:p.Arg198Gly | |
| NM_025237.3:c.592C>G MANE Select | NP_079513.1:p.Arg198Gly |