Linked Data
ClinVar Variation Id:
142062
dbSNP Id:
rs587782207
ExAC:
1:241680541 C / T
gnomAD v2:
1-241680541-C-T
gnomAD v3:
1-241517241-C-T
gnomAD v4:
1-241517241-C-T
COSMIC:
COSM4030154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241517241C>T , CM000663.2:g.241517241C>T | GRCh38 |
| NC_000001.10:g.241680541C>T , CM000663.1:g.241680541C>T | GRCh37 |
| NC_000001.9:g.239747164C>T | NCBI36 |
| NG_012338.1:g.7514G>A , LRG_504:g.7514G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.711G>A | ||
| ENST00000682162.1:c.237G>A | ENSP00000508203.1:n.237G>A | |
| ENST00000682567.1:n.285G>A | ||
| ENST00000683521.1:c.208G>A | ENSP00000506864.1:p.Ala70Thr | |
| ENST00000684483.1:c.208G>A | ENSP00000507894.1:p.Ala70Thr | |
| ENST00000366560.4:c.208G>A MANE Select | ENSP00000355518.4:p.Ala70Thr | |
| ENST00000366560.3:c.208G>A | ENSP00000355518.3:p.Ala70Thr | |
| ENST00000493477.1:n.321G>A | ||
| NM_000143.3:c.208G>A , LRG_504t1:c.208G>A | NP_000134.2:p.Ala70Thr | |
| XM_011544132.1:c.-21G>A | XP_011542434.1:n.-21G>A | |
| XM_011544132.2:c.-21G>A | XP_011542434.1:n.-21G>A | |
| NM_000143.4:c.208G>A MANE Select | NP_000134.2:p.Ala70Thr |