Linked Data
ClinVar Variation Id:
6296
ClinVar RCV Id:
RCV000006676
dbSNP Id:
rs121908583
ExAC:
20:49565187 G / C
gnomAD v2:
20-49565187-G-C
gnomAD v3:
20-50948650-G-C
gnomAD v4:
20-50948650-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50948650G>C , CM000682.2:g.50948650G>C | GRCh38 |
| NC_000020.10:g.49565187G>C , CM000682.1:g.49565187G>C | GRCh37 |
| NC_000020.9:g.48998594G>C | NCBI36 |
| NG_008923.1:g.14874C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.274C>G | ENSP00000360640.5:p.Arg92Gly | |
| ENST00000681979.1:n.168C>G | ||
| ENST00000682713.1:n.823C>G | ||
| ENST00000682754.1:n.272C>G | ||
| ENST00000683010.1:n.1981C>G | ||
| ENST00000683048.1:c.274C>G | ENSP00000506986.1:p.Arg92Gly | |
| ENST00000683466.1:c.-42C>G | ENSP00000507404.1:n.-42C>G | |
| ENST00000684708.1:n.203C>G | ||
| ENST00000371588.10:c.274C>G MANE Select | ENSP00000360644.5:p.Arg92Gly | |
| ENST00000371582.8:c.274C>G | ENSP00000360638.4:p.Arg92Gly | |
| ENST00000371584.8:c.272C>G | ||
| ENST00000371588.9:c.274C>G | ENSP00000360644.5:p.Arg92Gly | |
| ENST00000413082.1:c.274C>G | ENSP00000394921.1:p.Arg92Gly | |
| ENST00000466152.5:n.301C>G | ||
| NM_001317034.1:c.274C>G | NP_001303963.1:p.Arg92Gly | |
| NM_001317035.1:c.274C>G | NP_001303964.1:p.Arg92Gly | |
| NM_001317036.1:c.274C>G | NP_001303965.1:p.Arg92Gly | |
| NM_003859.1:c.274C>G | NP_003850.1:p.Arg92Gly | |
| NM_003859.2:c.274C>G | NP_003850.1:p.Arg92Gly | |
| NR_133648.1:n.315C>G | ||
| XM_011529093.1:c.274C>G | XP_011527395.1:p.Arg92Gly | |
| XM_011529094.1:c.274C>G | XP_011527396.1:p.Arg92Gly | |
| XR_002958550.1:n.312C>G | ||
| XR_002958551.1:n.313C>G | ||
| NM_003859.3:c.274C>G MANE Select | NP_003850.1:p.Arg92Gly | |
| NR_133648.2:n.283C>G |