Linked Data
ClinVar Variation Id:
1224328
ClinVar RCV Id:
RCV001596866
dbSNP Id:
rs1252223404
gnomAD v4:
19-18785979-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785979T>G , CM000681.2:g.18785979T>G | GRCh38 |
| NC_000019.9:g.18896789T>G , CM000681.1:g.18896789T>G | GRCh37 |
| NC_000019.8:g.18757789T>G | NCBI36 |
| NG_007070.1:g.10326A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1475A>C MANE Select | ENSP00000222271.2:p.Gln492Pro | |
| ENST00000222271.6:c.1475A>C | ENSP00000222271.2:p.Gln492Pro | |
| ENST00000425807.1:c.1316A>C | ENSP00000403792.1:p.Gln439Pro | |
| ENST00000542601.6:c.1376A>C | ENSP00000439156.2:p.Gln459Pro | |
| NM_000095.2:c.1475A>C | NP_000086.2:p.Gln492Pro | |
| NM_000095.3:c.1475A>C MANE Select | NP_000086.2:p.Gln492Pro |