Linked Data
ClinVar Variation Id:
214376
dbSNP Id:
rs863223968
gnomAD v2:
1-241671938-G-A
gnomAD v4:
1-241508638-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508638G>A , CM000663.2:g.241508638G>A | GRCh38 |
| NC_000001.10:g.241671938G>A , CM000663.1:g.241671938G>A | GRCh37 |
| NC_000001.9:g.239738561G>A | NCBI36 |
| NG_012338.1:g.16117C>T , LRG_504:g.16117C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1206C>T | ||
| ENST00000682162.1:c.732C>T | ENSP00000508203.1:n.732C>T | |
| ENST00000682567.1:n.780C>T | ||
| ENST00000683521.1:c.703C>T | ENSP00000506864.1:p.His235Tyr | |
| ENST00000684161.1:n.1918C>T | ||
| ENST00000684483.1:c.*99C>T | ENSP00000507894.1:n.*99C>T | |
| ENST00000366560.4:c.703C>T MANE Select | ENSP00000355518.4:p.His235Tyr | |
| ENST00000366560.3:c.703C>T | ENSP00000355518.3:p.His235Tyr | |
| NM_000143.3:c.703C>T , LRG_504t1:c.703C>T | NP_000134.2:p.His235Tyr | |
| XM_011544132.1:c.475C>T | XP_011542434.1:p.His159Tyr | |
| XM_011544132.2:c.475C>T | XP_011542434.1:p.His159Tyr | |
| NM_000143.4:c.703C>T MANE Select | NP_000134.2:p.His235Tyr |