Linked Data
dbSNP Id:
rs376875031
ExAC:
8:19809439 C / G
gnomAD v2:
8-19809439-C-G
gnomAD v4:
8-19951928-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951928C>G , CM000670.2:g.19951928C>G | GRCh38 |
| NC_000008.10:g.19809439C>G , CM000670.1:g.19809439C>G | GRCh37 |
| NC_000008.9:g.19853719C>G | NCBI36 |
| NG_008855.1:g.17858C>G | |
| NG_008855.2:g.55212C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.409C>G MANE Select | ENSP00000497642.1:p.Arg137Gly | |
| ENST00000311322.8:c.409C>G | ENSP00000309757.6:p.Arg137Gly | |
| ENST00000520959.5:c.181C>G | ENSP00000428496.1:p.Arg61Gly | |
| NM_000237.2:c.409C>G | NP_000228.1:p.Arg137Gly | |
| NM_000237.3:c.409C>G MANE Select | NP_000228.1:p.Arg137Gly |