Linked Data
ClinVar Variation Id:
375727
ClinVar RCV Id:
RCV000477696
dbSNP Id:
rs1060505030
gnomAD v4:
1-109075001-A-T
PubMed:
PMID:28257693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109075001A>T , CM000663.2:g.109075001A>T | GRCh38 |
| NC_000001.10:g.109617623A>T , CM000663.1:g.109617623A>T | GRCh37 |
| NC_000001.9:g.109419146A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461096.7:c.-23T>A | ENSP00000433883.2:n.-23T>A | |
| ENST00000692048.1:c.92T>A | ENSP00000508876.1:p.Leu31His | |
| ENST00000338366.6:c.92T>A MANE Select | ENSP00000355051.4:p.Leu31His | |
| ENST00000338366.5:c.92T>A | ENSP00000355051.4:p.Leu31His | |
| ENST00000461096.6:c.92T>A | ENSP00000433883.1:p.Leu31His | |
| NM_005645.3:c.92T>A | NP_005636.1:p.Leu31His | |
| NM_005645.4:c.92T>A MANE Select | NP_005636.1:p.Leu31His |