Linked Data
ClinVar Variation Id:
1578401
ClinVar RCV Id:
RCV002090579
dbSNP Id:
rs1461420199
gnomAD v2:
17-62022069-G-A
gnomAD v3:
17-63944709-G-A
gnomAD v4:
17-63944709-G-A
COSMIC:
COSM2795737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63944709G>A , CM000679.2:g.63944709G>A | GRCh38 |
| NC_000017.10:g.62022069G>A , CM000679.1:g.62022069G>A | GRCh37 |
| NC_000017.9:g.59375801G>A | NCBI36 |
| NG_011699.1:g.33210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3876C>T MANE Select | ENSP00000396320.1:p.Gly1292= | |
| ENST00000578147.5:c.3876C>T | ENSP00000463963.1:p.Gly1292= | |
| NM_000334.4:c.3876C>T MANE Select | NP_000325.4:p.Gly1292= | |
| XM_005257566.3:c.3876C>T | XP_005257623.1:p.Gly1292= |