Linked Data
ClinVar Variation Id:
523073
ClinVar RCV Id:
RCV000626283
dbSNP Id:
rs375518920
ExAC:
2:197171285 G / A
gnomAD v2:
2-197171285-G-A
gnomAD v4:
2-196306561-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.196306561G>A , CM000664.2:g.196306561G>A | GRCh38 |
| NC_000002.11:g.197171285G>A , CM000664.1:g.197171285G>A | GRCh37 |
| NC_000002.10:g.196879530G>A | NCBI36 |
| NG_053156.1:g.292132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260983.8:c.2741C>T | ENSP00000260983.2:p.Thr914Met | |
| ENST00000644030.1:c.2762C>T | ENSP00000495504.1:p.Thr921Met | |
| ENST00000644256.1:c.2741C>T | ENSP00000494649.1:p.Thr914Met | |
| ENST00000644405.1:n.378C>T | ||
| ENST00000644421.1:c.549C>T | ||
| ENST00000644978.2:c.2741C>T MANE Select | ENSP00000495418.1:p.Thr914Met | |
| ENST00000647236.1:c.*1927C>T | ENSP00000494800.1:n.*1927C>T | |
| ENST00000260983.7:c.2741C>T | ENSP00000260983.2:p.Thr914Met | |
| ENST00000409111.2:c.1673C>T | ENSP00000386775.1:p.Thr558Met | |
| NM_001304840.1:c.1673C>T | NP_001291769.1:p.Thr558Met | |
| NM_020760.2:c.2741C>T | NP_065811.1:p.Thr914Met | |
| XM_006712646.2:c.2762C>T | XP_006712709.1:p.Thr921Met | |
| XM_006712648.2:c.2369C>T | XP_006712711.1:p.Thr790Met | |
| NM_001304840.2:c.1673C>T | NP_001291769.1:p.Thr558Met | |
| NM_001348768.1:c.2741C>T | NP_001335697.1:p.Thr914Met | |
| NM_020760.3:c.2741C>T | NP_065811.1:p.Thr914Met | |
| XM_006712646.3:c.2762C>T | XP_006712709.1:p.Thr921Met | |
| XM_006712648.4:c.2369C>T | XP_006712711.1:p.Thr790Met | |
| XM_024453020.1:c.2762C>T | XP_024308788.1:p.Thr921Met | |
| XM_024453021.1:c.2762C>T | XP_024308789.1:p.Thr921Met | |
| NM_001348768.2:c.2741C>T MANE Select | NP_001335697.1:p.Thr914Met | |
| NM_001304840.3:c.1673C>T | NP_001291769.1:p.Thr558Met | |
| NM_020760.4:c.2741C>T | NP_065811.1:p.Thr914Met |