Linked Data
ClinVar Variation Id:
648293
dbSNP Id:
rs749752047
ExAC:
1:241675371 T / A
gnomAD v2:
1-241675371-T-A
gnomAD v4:
1-241512071-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512071T>A , CM000663.2:g.241512071T>A | GRCh38 |
| NC_000001.10:g.241675371T>A , CM000663.1:g.241675371T>A | GRCh37 |
| NC_000001.9:g.239741994T>A | NCBI36 |
| NG_012338.1:g.12684A>T , LRG_504:g.12684A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.954A>T | ||
| ENST00000682162.1:c.480A>T | ENSP00000508203.1:n.480A>T | |
| ENST00000682567.1:n.528A>T | ||
| ENST00000683521.1:c.451A>T | ENSP00000506864.1:p.Met151Leu | |
| ENST00000684483.1:c.451A>T | ENSP00000507894.1:p.Met151Leu | |
| ENST00000366560.4:c.451A>T MANE Select | ENSP00000355518.4:p.Met151Leu | |
| ENST00000366560.3:c.451A>T | ENSP00000355518.3:p.Met151Leu | |
| ENST00000497042.1:n.147A>T | ||
| NM_000143.3:c.451A>T , LRG_504t1:c.451A>T | NP_000134.2:p.Met151Leu | |
| XM_011544132.1:c.223A>T | XP_011542434.1:p.Met75Leu | |
| XM_011544132.2:c.223A>T | XP_011542434.1:p.Met75Leu | |
| NM_000143.4:c.451A>T MANE Select | NP_000134.2:p.Met151Leu |