Linked Data
ClinVar Variation Id:
214428
dbSNP Id:
rs863224013
gnomAD v2:
1-241680592-C-T
gnomAD v4:
1-241517292-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241517292C>T , CM000663.2:g.241517292C>T | GRCh38 |
| NC_000001.10:g.241680592C>T , CM000663.1:g.241680592C>T | GRCh37 |
| NC_000001.9:g.239747215C>T | NCBI36 |
| NG_012338.1:g.7463G>A , LRG_504:g.7463G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.660G>A | ||
| ENST00000682162.1:c.186G>A | ENSP00000508203.1:p.Ter62= | |
| ENST00000682567.1:n.234G>A | ||
| ENST00000683521.1:c.157G>A | ENSP00000506864.1:p.Glu53Lys | |
| ENST00000684483.1:c.157G>A | ENSP00000507894.1:p.Glu53Lys | |
| ENST00000366560.4:c.157G>A MANE Select | ENSP00000355518.4:p.Glu53Lys | |
| ENST00000366560.3:c.157G>A | ENSP00000355518.3:p.Glu53Lys | |
| ENST00000493477.1:n.270G>A | ||
| NM_000143.3:c.157G>A , LRG_504t1:c.157G>A | NP_000134.2:p.Glu53Lys | |
| XM_011544132.1:c.-72G>A | XP_011542434.1:n.-72G>A | |
| XM_011544132.2:c.-72G>A | XP_011542434.1:n.-72G>A | |
| NM_000143.4:c.157G>A MANE Select | NP_000134.2:p.Glu53Lys |