Linked Data
ClinVar Variation Id:
37357
dbSNP Id:
rs111033688
gnomAD v4:
9-34647848-C-T
PubMed:
PMID:11261429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647848C>T , CM000671.2:g.34647848C>T | GRCh38 |
| NC_000009.11:g.34647845C>T , CM000671.1:g.34647845C>T | GRCh37 |
| NC_000009.10:g.34637845C>T | NCBI36 |
| NG_009029.1:g.6211C>T | |
| NG_028966.1:g.664C>T | |
| NG_009029.2:g.6260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.345C>T | ENSP00000509954.1:p.Ser115= | |
| ENST00000378842.8:c.394C>T MANE Select | ENSP00000368119.4:p.His132Tyr | |
| ENST00000378842.7:c.394C>T | ENSP00000368119.3:p.His132Tyr | |
| ENST00000450095.6:c.67C>T | ENSP00000401956.2:p.His23Tyr | |
| ENST00000465543.6:n.733C>T | ||
| ENST00000472111.5:n.650C>T | ||
| ENST00000473506.6:c.345C>T | ENSP00000432839.2:p.Ser115= | |
| ENST00000473529.5:n.530C>T | ||
| ENST00000485531.1:n.835C>T | ||
| ENST00000487381.5:n.779C>T | ||
| ENST00000489643.6:n.283-267C>T | ||
| ENST00000554085.5:c.*138C>T | ENSP00000450419.1:n.*138C>T | |
| ENST00000554139.5:n.573C>T | ||
| ENST00000554330.5:n.557C>T | ||
| ENST00000554550.5:c.*14C>T | ENSP00000451435.1:n.*14C>T | |
| ENST00000554638.5:n.866C>T | ||
| ENST00000554897.5:c.*14C>T | ENSP00000450942.1:n.*14C>T | |
| ENST00000554944.5:n.590C>T | ||
| ENST00000555020.5:n.550C>T | ||
| ENST00000555086.5:n.398C>T | ||
| ENST00000555214.5:n.262-200C>T | ||
| ENST00000556244.1:c.381C>T | ||
| ENST00000556278.1:c.253-267C>T | ENSP00000451792.1:n.253-267C>T | |
| ENST00000556494.5:n.515C>T | ||
| ENST00000557541.5:n.538C>T | ||
| ENST00000557706.5:n.956C>T | ||
| NM_000155.3:c.394C>T | NP_000146.2:p.His132Tyr | |
| NM_001258332.1:c.67C>T | NP_001245261.1:p.His23Tyr | |
| NM_000155.4:c.394C>T MANE Select | NP_000146.2:p.His132Tyr | |
| NM_001258332.2:c.67C>T | NP_001245261.1:p.His23Tyr |