Linked Data
ClinVar Variation Id:
1655376
ClinVar RCV Id:
RCV002158884
dbSNP Id:
rs146054661
ExAC:
5:33963871 G / A
gnomAD v2:
5-33963871-G-A
gnomAD v3:
5-33963766-G-A
gnomAD v4:
5-33963766-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33963766G>A , CM000667.2:g.33963766G>A | GRCh38 |
| NC_000005.9:g.33963871G>A , CM000667.1:g.33963871G>A | GRCh37 |
| NC_000005.8:g.33999628G>A | NCBI36 |
| NG_011691.2:g.25910C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296589.9:c.813C>T MANE Select | ENSP00000296589.4:p.Ile271= | |
| ENST00000296589.8:c.813C>T | ENSP00000296589.4:p.Ile271= | |
| ENST00000382102.7:c.813C>T | ENSP00000371534.3:p.Ile271= | |
| ENST00000505056.1:n.615C>T | ||
| ENST00000509381.1:c.563-9262C>T | ENSP00000421100.1:n.563-9262C>T | |
| ENST00000510600.1:c.288C>T | ENSP00000424010.1:p.Ile96= | |
| NM_001012509.3:c.813C>T | NP_001012527.1:p.Ile271= | |
| NM_001297417.2:c.563-9262C>T | NP_001284346.2:n.563-9262C>T | |
| NM_016180.4:c.813C>T | NP_057264.3:p.Ile271= | |
| XM_011514051.1:c.411C>T | XP_011512353.1:p.Ile137= | |
| XM_011514052.1:c.813C>T | XP_011512354.1:p.Ile271= | |
| XR_925620.1:n.1630C>T | ||
| NM_016180.5:c.813C>T MANE Select | NP_057264.4:p.Ile271= | |
| NM_001012509.4:c.813C>T | NP_001012527.2:p.Ile271= | |
| NM_001297417.3:c.563-9262C>T | NP_001284346.2:n.563-9262C>T | |
| NM_001297417.4:c.563-9262C>T | NP_001284346.2:n.563-9262C>T |