Linked Data
ClinVar Variation Id:
1106730
ClinVar RCV Id:
RCV001431583
dbSNP Id:
rs139435774
ExAC:
19:12767853 C / T
gnomAD v2:
19-12767853-C-T
gnomAD v3:
19-12657039-C-T
gnomAD v4:
19-12657039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657039C>T , CM000681.2:g.12657039C>T | GRCh38 |
| NC_000019.9:g.12767853C>T , CM000681.1:g.12767853C>T | GRCh37 |
| NC_000019.8:g.12628853C>T | NCBI36 |
| NG_008318.1:g.14739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1437G>A MANE Select | ENSP00000395473.2:p.Ala479= | |
| ENST00000221363.8:c.1434G>A | ENSP00000221363.4:p.Ala478= | |
| ENST00000433513.5:n.43G>A | ||
| ENST00000456935.6:c.1437G>A | ENSP00000395473.2:p.Ala479= | |
| ENST00000466794.5:n.1336G>A | ||
| ENST00000495617.1:n.613G>A | ||
| ENST00000593686.1:c.47G>A | ||
| ENST00000595880.5:n.34G>A | ||
| NM_000528.3:c.1437G>A | NP_000519.2:p.Ala479= | |
| NM_001173498.1:c.1434G>A | NP_001166969.1:p.Ala478= | |
| XM_005259913.1:c.1440G>A | XP_005259970.1:p.Ala480= | |
| XM_011528017.1:c.336G>A | XP_011526319.1:p.Ala112= | |
| XM_005259913.2:c.1440G>A | XP_005259970.1:p.Ala480= | |
| XM_024451518.1:c.336G>A | XP_024307286.1:p.Ala112= | |
| NM_000528.4:c.1437G>A MANE Select | NP_000519.2:p.Ala479= | |
| NM_001173498.2:c.1434G>A | NP_001166969.1:p.Ala478= |