Linked Data
ClinVar Variation Id:
2129076
ClinVar RCV Id:
RCV003040358
dbSNP Id:
rs1249593659
gnomAD v2:
17-62018356-C-A
gnomAD v4:
17-63940996-C-A
COSMIC:
COSM6081757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63940996C>A , CM000679.2:g.63940996C>A | GRCh38 |
| NC_000017.10:g.62018356C>A , CM000679.1:g.62018356C>A | GRCh37 |
| NC_000017.9:g.59372088C>A | NCBI36 |
| NG_011699.1:g.36923G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5286G>T MANE Select | ENSP00000396320.1:p.Gly1762= | |
| ENST00000578147.5:c.5286G>T | ENSP00000463963.1:p.Gly1762= | |
| NM_000334.4:c.5286G>T MANE Select | NP_000325.4:p.Gly1762= | |
| XM_005257566.3:c.5286G>T | XP_005257623.1:p.Gly1762= |