Linked Data
ClinVar Variation Id:
2141812
ClinVar RCV Id:
RCV003058736
dbSNP Id:
rs373585635
ExAC:
2:169788868 A / C
gnomAD v2:
2-169788868-A-C
gnomAD v3:
2-168932358-A-C
gnomAD v4:
2-168932358-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168932358A>C , CM000664.2:g.168932358A>C | GRCh38 |
| NC_000002.11:g.169788868A>C , CM000664.1:g.169788868A>C | GRCh37 |
| NC_000002.10:g.169497114A>C | NCBI36 |
| NG_007374.1:g.103966T>G | |
| NG_007374.2:g.104039T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.1530+19T>G | ENSP00000497165.1:n.1530+19T>G | |
| ENST00000650372.1:c.3213+19T>G MANE Select | ENSP00000497931.1:n.3213+19T>G | |
| ENST00000263817.6:c.3213+19T>G | ENSP00000263817.6:n.3213+19T>G | |
| ENST00000439188.1:c.1902+19T>G | ENSP00000416058.1:n.1902+19T>G | |
| NM_003742.2:c.3213+19T>G | NP_003733.2:n.3213+19T>G | |
| XM_006712817.2:c.3255+19T>G | XP_006712880.1:n.3255+19T>G | |
| XM_011512077.1:c.3315+19T>G | XP_011510379.1:n.3315+19T>G | |
| XM_011512078.1:c.3315+19T>G | XP_011510380.1:n.3315+19T>G | |
| XM_011512079.1:c.3315+19T>G | XP_011510381.1:n.3315+19T>G | |
| XM_011512081.1:c.1539+19T>G | XP_011510383.1:n.1539+19T>G | |
| NM_003742.4:c.3213+19T>G MANE Select | NP_003733.2:n.3213+19T>G | |
| XM_006712817.3:c.3255+19T>G | XP_006712880.1:n.3255+19T>G | |
| XM_011512077.2:c.3315+19T>G | XP_011510379.1:n.3315+19T>G | |
| XM_011512078.2:c.3315+19T>G | XP_011510380.1:n.3315+19T>G | |
| XM_011512081.2:c.1539+19T>G | XP_011510383.1:n.1539+19T>G | |
| XM_017005165.1:c.3315+19T>G | XP_016860654.1:n.3315+19T>G | |
| XM_017005166.1:c.2544+19T>G | XP_016860655.1:n.2544+19T>G | |
| XM_017005167.1:c.1998+19T>G | XP_016860656.1:n.1998+19T>G |