Linked Data
ClinVar Variation Id:
2898566
ClinVar RCV Id:
RCV003601061
dbSNP Id:
rs747845335
ExAC:
19:12774530 C / T
gnomAD v2:
19-12774530-C-T
gnomAD v4:
19-12663716-C-T
COSMIC:
COSM4074387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12663716C>T , CM000681.2:g.12663716C>T | GRCh38 |
| NC_000019.9:g.12774530C>T , CM000681.1:g.12774530C>T | GRCh37 |
| NC_000019.8:g.12635530C>T | NCBI36 |
| NG_008318.1:g.8062G>A | |
| NG_015814.1:g.1913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.750G>A MANE Select | ENSP00000395473.2:p.Ala250= | |
| ENST00000221363.8:c.750G>A | ENSP00000221363.4:p.Ala250= | |
| ENST00000456935.6:c.750G>A | ENSP00000395473.2:p.Ala250= | |
| ENST00000466794.5:n.732G>A | ||
| ENST00000486847.2:c.453G>A | ENSP00000470174.1:p.Ala151= | |
| NM_000528.3:c.750G>A | NP_000519.2:p.Ala250= | |
| NM_001173498.1:c.750G>A | NP_001166969.1:p.Ala250= | |
| XM_005259913.1:c.750G>A | XP_005259970.1:p.Ala250= | |
| XM_005259913.2:c.750G>A | XP_005259970.1:p.Ala250= | |
| XM_024451518.1:c.-269G>A | XP_024307286.1:n.-269G>A | |
| NM_000528.4:c.750G>A MANE Select | NP_000519.2:p.Ala250= | |
| NM_001173498.2:c.750G>A | NP_001166969.1:p.Ala250= |