Linked Data
ClinVar Variation Id:
1642763
ClinVar RCV Id:
RCV002145695
dbSNP Id:
rs1274103813
gnomAD v2:
19-12758377-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647563C>A , CM000681.2:g.12647563C>A | GRCh38 |
| NC_000019.9:g.12758377C>A , CM000681.1:g.12758377C>A | GRCh37 |
| NC_000019.8:g.12619377C>A | NCBI36 |
| NG_008318.1:g.24215G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2700G>T MANE Select | ENSP00000395473.2:p.Val900= | |
| ENST00000221363.8:c.2697G>T | ENSP00000221363.4:p.Val899= | |
| ENST00000456935.6:c.2700G>T | ENSP00000395473.2:p.Val900= | |
| ENST00000466794.5:n.3290G>T | ||
| ENST00000469423.1:n.22G>T | ||
| ENST00000493218.5:n.111G>T | ||
| ENST00000597692.1:c.259G>T | ||
| NM_000528.3:c.2700G>T | NP_000519.2:p.Val900= | |
| NM_001173498.1:c.2697G>T | NP_001166969.1:p.Val899= | |
| XM_005259913.1:c.2703G>T | XP_005259970.1:p.Val901= | |
| XM_011528017.1:c.1599G>T | XP_011526319.1:p.Val533= | |
| XM_005259913.2:c.2703G>T | XP_005259970.1:p.Val901= | |
| XM_024451518.1:c.1599G>T | XP_024307286.1:p.Val533= | |
| NM_000528.4:c.2700G>T MANE Select | NP_000519.2:p.Val900= | |
| NM_001173498.2:c.2697G>T | NP_001166969.1:p.Val899= |