Linked Data
ClinVar Variation Id:
459810
ClinVar RCV Id:
RCV000541188
dbSNP Id:
rs746905101
ExAC:
1:12025609 C / T
gnomAD v2:
1-12025609-C-T
gnomAD v4:
1-11965552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965552C>T , CM000663.2:g.11965552C>T | GRCh38 |
| NC_000001.10:g.12025609C>T , CM000663.1:g.12025609C>T | GRCh37 |
| NC_000001.9:g.11948196C>T | NCBI36 |
| NG_008159.1:g.35864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1543C>T MANE Select | ENSP00000196061.4:p.His515Tyr | |
| ENST00000196061.4:c.1543C>T | ENSP00000196061.4:p.His515Tyr | |
| ENST00000470133.1:n.157C>T | ||
| ENST00000491536.5:n.171C>T | ||
| NM_000302.3:c.1543C>T | NP_000293.2:p.His515Tyr | |
| NM_001316320.1:c.1684C>T | NP_001303249.1:p.His562Tyr | |
| XM_011541594.1:c.1624C>T | XP_011539896.1:p.His542Tyr | |
| XM_024447707.1:c.877C>T | XP_024303475.1:p.His293Tyr | |
| NM_000302.4:c.1543C>T MANE Select | NP_000293.2:p.His515Tyr | |
| NM_001316320.2:c.1684C>T | NP_001303249.1:p.His562Tyr |