Linked Data
ClinVar Variation Id:
1755628
ClinVar RCV Id:
RCV002369596
dbSNP Id:
rs1209612410
gnomAD v2:
1-241671960-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508660C>A , CM000663.2:g.241508660C>A | GRCh38 |
| NC_000001.10:g.241671960C>A , CM000663.1:g.241671960C>A | GRCh37 |
| NC_000001.9:g.239738583C>A | NCBI36 |
| NG_012338.1:g.16095G>T , LRG_504:g.16095G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1184G>T | ||
| ENST00000682162.1:c.710G>T | ENSP00000508203.1:n.710G>T | |
| ENST00000682567.1:n.758G>T | ||
| ENST00000683521.1:c.681G>T | ENSP00000506864.1:p.Gln227His | |
| ENST00000684161.1:n.1896G>T | ||
| ENST00000684483.1:c.*77G>T | ENSP00000507894.1:n.*77G>T | |
| ENST00000366560.4:c.681G>T MANE Select | ENSP00000355518.4:p.Gln227His | |
| ENST00000366560.3:c.681G>T | ENSP00000355518.3:p.Gln227His | |
| NM_000143.3:c.681G>T , LRG_504t1:c.681G>T | NP_000134.2:p.Gln227His | |
| XM_011544132.1:c.453G>T | XP_011542434.1:p.Gln151His | |
| XM_011544132.2:c.453G>T | XP_011542434.1:p.Gln151His | |
| NM_000143.4:c.681G>T MANE Select | NP_000134.2:p.Gln227His |