Linked Data
ClinVar Variation Id:
332014
ClinVar RCV Id:
RCV000399919
dbSNP Id:
rs495714
gnomAD v2:
2-169779764-C-T
gnomAD v3:
2-168923254-C-T
gnomAD v4:
2-168923254-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168923254C>T , CM000664.2:g.168923254C>T | GRCh38 |
| NC_000002.11:g.169779764C>T , CM000664.1:g.169779764C>T | GRCh37 |
| NC_000002.10:g.169488010C>T | NCBI36 |
| NG_007374.1:g.113070G>A | |
| NG_007374.2:g.113143G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648875.1:c.226+1403G>A | ||
| ENST00000649448.1:c.2711G>A | ENSP00000497165.1:n.2711G>A | |
| ENST00000650372.1:c.*368G>A MANE Select | ENSP00000497931.1:n.*368G>A | |
| ENST00000263817.6:c.*368G>A | ENSP00000263817.6:n.*368G>A | |
| NM_003742.2:c.*368G>A | NP_003733.2:n.*368G>A | |
| XM_006712817.2:c.*368G>A | XP_006712880.1:n.*368G>A | |
| XM_011512077.1:c.*368G>A | XP_011510379.1:n.*368G>A | |
| XM_011512078.1:c.*322G>A | XP_011510380.1:n.*322G>A | |
| XM_011512079.1:c.*368G>A | XP_011510381.1:n.*368G>A | |
| XM_011512081.1:c.*368G>A | XP_011510383.1:n.*368G>A | |
| NM_003742.4:c.*368G>A MANE Select | NP_003733.2:n.*368G>A | |
| XM_006712817.3:c.*368G>A | XP_006712880.1:n.*368G>A | |
| XM_011512077.2:c.*368G>A | XP_011510379.1:n.*368G>A | |
| XM_011512078.2:c.*322G>A | XP_011510380.1:n.*322G>A | |
| XM_011512081.2:c.*368G>A | XP_011510383.1:n.*368G>A | |
| XM_017005165.1:c.3867+1403G>A | XP_016860654.1:n.3867+1403G>A | |
| XM_017005166.1:c.*368G>A | XP_016860655.1:n.*368G>A | |
| XM_017005167.1:c.*368G>A | XP_016860656.1:n.*368G>A |