Linked Data
dbSNP Id:
rs1199951010
gnomAD v2:
2-169784348-A-C
gnomAD v3:
2-168927838-A-C
gnomAD v4:
2-168927838-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168927838A>C , CM000664.2:g.168927838A>C | GRCh38 |
| NC_000002.11:g.169784348A>C , CM000664.1:g.169784348A>C | GRCh37 |
| NC_000002.10:g.169492594A>C | NCBI36 |
| NG_007374.1:g.108486T>G | |
| NG_007374.2:g.108559T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649448.1:c.1789-476T>G | ENSP00000497165.1:n.1789-476T>G | |
| ENST00000650372.1:c.3412-476T>G MANE Select | ENSP00000497931.1:n.3412-476T>G | |
| ENST00000263817.6:c.3412-476T>G | ENSP00000263817.6:n.3412-476T>G | |
| ENST00000439188.1:c.2101-548T>G | ENSP00000416058.1:n.2101-548T>G | |
| NM_003742.2:c.3412-476T>G | NP_003733.2:n.3412-476T>G | |
| XM_006712817.2:c.3454-476T>G | XP_006712880.1:n.3454-476T>G | |
| XM_011512077.1:c.3514-476T>G | XP_011510379.1:n.3514-476T>G | |
| XM_011512078.1:c.3514-476T>G | XP_011510380.1:n.3514-476T>G | |
| XM_011512079.1:c.3514-476T>G | XP_011510381.1:n.3514-476T>G | |
| XM_011512081.1:c.1738-476T>G | XP_011510383.1:n.1738-476T>G | |
| NM_003742.4:c.3412-476T>G MANE Select | NP_003733.2:n.3412-476T>G | |
| XM_006712817.3:c.3454-476T>G | XP_006712880.1:n.3454-476T>G | |
| XM_011512077.2:c.3514-476T>G | XP_011510379.1:n.3514-476T>G | |
| XM_011512078.2:c.3514-476T>G | XP_011510380.1:n.3514-476T>G | |
| XM_011512081.2:c.1738-476T>G | XP_011510383.1:n.1738-476T>G | |
| XM_017005165.1:c.3514-476T>G | XP_016860654.1:n.3514-476T>G | |
| XM_017005166.1:c.2743-476T>G | XP_016860655.1:n.2743-476T>G | |
| XM_017005167.1:c.2197-476T>G | XP_016860656.1:n.2197-476T>G |