Linked Data
ClinVar Variation Id:
1232026
ClinVar RCV Id:
RCV001620112
dbSNP Id:
rs1800542
ExAC:
6:12292528 G / A
gnomAD v2:
6-12292528-G-A
gnomAD v3:
6-12292295-G-A
gnomAD v4:
6-12292295-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12292295G>A , CM000668.2:g.12292295G>A | GRCh38 |
| NC_000006.11:g.12292528G>A , CM000668.1:g.12292528G>A | GRCh37 |
| NC_000006.10:g.12400514G>A | NCBI36 |
| NG_016196.1:g.7000G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379375.6:c.65-46G>A MANE Select | ENSP00000368683.5:n.65-46G>A | |
| ENST00000379375.5:c.65-46G>A | ENSP00000368683.5:n.65-46G>A | |
| NM_001168319.1:c.65-49G>A | NP_001161791.1:n.65-49G>A | |
| NM_001955.4:c.65-46G>A | NP_001946.3:n.65-46G>A | |
| XM_011514330.1:c.65-46G>A | XP_011512632.1:n.65-46G>A | |
| XM_011514331.1:c.65-46G>A | XP_011512633.1:n.65-46G>A | |
| XM_011514332.1:c.65-49G>A | XP_011512634.1:n.65-49G>A | |
| XM_011514330.2:c.65-46G>A | XP_011512632.1:n.65-46G>A | |
| XM_011514331.3:c.65-46G>A | XP_011512633.1:n.65-46G>A | |
| XM_011514332.2:c.65-49G>A | XP_011512634.1:n.65-49G>A | |
| XM_017010331.1:c.65-46G>A | XP_016865820.1:n.65-46G>A | |
| NM_001955.5:c.65-46G>A MANE Select | NP_001946.3:n.65-46G>A | |
| NM_001168319.2:c.65-49G>A | NP_001161791.1:n.65-49G>A |