Linked Data
ClinVar Variation Id:
2978184
ClinVar RCV Id:
RCV003836846
dbSNP Id:
rs766762965
ExAC:
2:169788876 C / T
gnomAD v2:
2-169788876-C-T
gnomAD v4:
2-168932366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168932366C>T , CM000664.2:g.168932366C>T | GRCh38 |
| NC_000002.11:g.169788876C>T , CM000664.1:g.169788876C>T | GRCh37 |
| NC_000002.10:g.169497122C>T | NCBI36 |
| NG_007374.1:g.103958G>A | |
| NG_007374.2:g.104031G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.1530+11G>A | ENSP00000497165.1:n.1530+11G>A | |
| ENST00000650372.1:c.3213+11G>A MANE Select | ENSP00000497931.1:n.3213+11G>A | |
| ENST00000263817.6:c.3213+11G>A | ENSP00000263817.6:n.3213+11G>A | |
| ENST00000439188.1:c.1902+11G>A | ENSP00000416058.1:n.1902+11G>A | |
| NM_003742.2:c.3213+11G>A | NP_003733.2:n.3213+11G>A | |
| XM_006712817.2:c.3255+11G>A | XP_006712880.1:n.3255+11G>A | |
| XM_011512077.1:c.3315+11G>A | XP_011510379.1:n.3315+11G>A | |
| XM_011512078.1:c.3315+11G>A | XP_011510380.1:n.3315+11G>A | |
| XM_011512079.1:c.3315+11G>A | XP_011510381.1:n.3315+11G>A | |
| XM_011512081.1:c.1539+11G>A | XP_011510383.1:n.1539+11G>A | |
| NM_003742.4:c.3213+11G>A MANE Select | NP_003733.2:n.3213+11G>A | |
| XM_006712817.3:c.3255+11G>A | XP_006712880.1:n.3255+11G>A | |
| XM_011512077.2:c.3315+11G>A | XP_011510379.1:n.3315+11G>A | |
| XM_011512078.2:c.3315+11G>A | XP_011510380.1:n.3315+11G>A | |
| XM_011512081.2:c.1539+11G>A | XP_011510383.1:n.1539+11G>A | |
| XM_017005165.1:c.3315+11G>A | XP_016860654.1:n.3315+11G>A | |
| XM_017005166.1:c.2544+11G>A | XP_016860655.1:n.2544+11G>A | |
| XM_017005167.1:c.1998+11G>A | XP_016860656.1:n.1998+11G>A |