Linked Data
ClinVar Variation Id:
1414673
ClinVar RCV Id:
RCV001930592
dbSNP Id:
rs764650519
gnomAD v2:
19-34012665-A-G
gnomAD v3:
19-33521759-A-G
gnomAD v4:
19-33521759-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33521759A>G , CM000681.2:g.33521759A>G | GRCh38 |
| NC_000019.9:g.34012665A>G , CM000681.1:g.34012665A>G | GRCh37 |
| NC_000019.8:g.38704505A>G | NCBI36 |
| NG_013358.1:g.5135T>C | |
| NG_013358.2:g.5135T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.2T>C | ENSP00000468516.4:p.Met1Thr | |
| ENST00000651646.2:c.2T>C | ENSP00000498950.2:p.Met1Thr | |
| ENST00000651901.2:c.2T>C | ENSP00000498922.2:p.Met1Thr | |
| ENST00000698359.1:c.2T>C | ENSP00000513682.1:p.Met1Thr | |
| ENST00000698360.1:c.2T>C | ENSP00000513683.1:p.Met1Thr | |
| ENST00000698361.1:c.2T>C | ENSP00000513684.1:p.Met1Thr | |
| ENST00000698362.1:c.2T>C | ENSP00000513685.1:p.Met1Thr | |
| ENST00000698363.1:n.65T>C | ||
| ENST00000698364.1:n.65T>C | ||
| ENST00000698365.1:n.65T>C | ||
| ENST00000698426.1:c.-514T>C | ENSP00000513713.1:n.-514T>C | |
| ENST00000698427.1:c.-64T>C | ENSP00000513714.1:n.-64T>C | |
| ENST00000698428.1:c.-392T>C | ENSP00000513715.1:n.-392T>C | |
| ENST00000698435.1:c.2T>C | ENSP00000513719.1:p.Met1Thr | |
| ENST00000698436.1:c.2T>C | ENSP00000513720.1:p.Met1Thr | |
| ENST00000244137.12:c.2T>C MANE Select | ENSP00000244137.5:p.Met1Thr | |
| ENST00000244137.11:c.2T>C | ENSP00000244137.5:p.Met1Thr | |
| ENST00000397032.8:c.2T>C | ENSP00000380226.3:p.Met1Thr | |
| ENST00000436370.7:c.2T>C | ENSP00000391890.2:p.Met1Thr | |
| NM_000285.3:c.2T>C | NP_000276.2:p.Met1Thr | |
| NM_001166056.1:c.2T>C | NP_001159528.1:p.Met1Thr | |
| NM_001166057.1:c.2T>C | NP_001159529.1:p.Met1Thr | |
| NM_000285.4:c.2T>C MANE Select | NP_000276.2:p.Met1Thr | |
| NM_001166056.2:c.2T>C | NP_001159528.1:p.Met1Thr | |
| NM_001166057.2:c.2T>C | NP_001159529.1:p.Met1Thr |