Linked Data
ClinVar Variation Id:
708568
ClinVar RCV Id:
RCV000879850
dbSNP Id:
rs150086428
ExAC:
11:36300107 G / A
gnomAD v2:
11-36300107-G-A
gnomAD v3:
11-36278557-G-A
gnomAD v4:
11-36278557-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36278557G>A , CM000673.2:g.36278557G>A | GRCh38 |
| NC_000011.9:g.36300107G>A , CM000673.1:g.36300107G>A | GRCh37 |
| NC_000011.8:g.36256683G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263401.10:c.237C>T MANE Select | ENSP00000263401.5:p.Ala79= | |
| ENST00000263401.9:c.237C>T | ENSP00000263401.5:p.Ala79= | |
| ENST00000452374.6:c.111C>T | ENSP00000392510.2:p.Ala37= | |
| ENST00000526789.1:n.253C>T | ||
| ENST00000528608.5:n.251C>T | ||
| ENST00000532705.1:c.237C>T | ENSP00000435599.1:p.Ala79= | |
| NM_001101653.1:c.111C>T | NP_001095123.1:p.Ala37= | |
| NM_001307932.1:c.237C>T | NP_001294861.1:p.Ala79= | |
| NM_001307937.1:c.210C>T | NP_001294866.1:p.Ala70= | |
| NM_014186.3:c.237C>T | NP_054905.2:p.Ala79= | |
| XM_017017625.1:c.237C>T | XP_016873114.1:p.Ala79= | |
| NM_014186.4:c.237C>T MANE Select | NP_054905.2:p.Ala79= | |
| NM_001101653.2:c.111C>T | NP_001095123.1:p.Ala37= | |
| NM_001307932.2:c.237C>T | NP_001294861.1:p.Ala79= | |
| NM_001307937.2:c.210C>T | NP_001294866.1:p.Ala70= |