Linked Data
ClinVar Variation Id:
3024148
ClinVar RCV Id:
RCV003881729
dbSNP Id:
rs372120002
ExAC:
19:18499449 T / G
gnomAD v2:
19-18499449-T-G
gnomAD v3:
19-18388639-T-G
gnomAD v4:
19-18388639-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388639T>G , CM000681.2:g.18388639T>G | GRCh38 |
| NC_000019.9:g.18499449T>G , CM000681.1:g.18499449T>G | GRCh37 |
| NC_000019.8:g.18360449T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.631T>G | ENSP00000470531.3:p.Cys211Gly | |
| ENST00000597765.2:c.631T>G | ENSP00000469819.2:p.Cys211Gly | |
| ENST00000252809.3:c.631T>G MANE Select | ENSP00000252809.3:p.Cys211Gly | |
| NM_004864.2:c.631T>G | NP_004855.2:p.Cys211Gly | |
| NM_004864.3:c.631T>G | NP_004855.2:p.Cys211Gly | |
| XM_024451789.1:c.631T>G | XP_024307557.1:p.Cys211Gly | |
| NM_004864.4:c.631T>G MANE Select | NP_004855.2:p.Cys211Gly |