Linked Data
dbSNP Id:
rs201068438
ExAC:
2:169801116 C / A
gnomAD v2:
2-169801116-C-A
gnomAD v3:
2-168944606-C-A
gnomAD v4:
2-168944606-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168944606C>A , CM000664.2:g.168944606C>A | GRCh38 |
| NC_000002.11:g.169801116C>A , CM000664.1:g.169801116C>A | GRCh37 |
| NC_000002.10:g.169509362C>A | NCBI36 |
| NG_007374.1:g.91718G>T | |
| NG_007374.2:g.91791G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.926G>T | ENSP00000497165.1:p.Gly309Val | |
| ENST00000650372.1:c.2609G>T MANE Select | ENSP00000497931.1:p.Gly870Val | |
| ENST00000263817.6:c.2609G>T | ENSP00000263817.6:p.Gly870Val | |
| ENST00000439188.1:c.1298G>T | ENSP00000416058.1:n.1298G>T | |
| NM_003742.2:c.2609G>T | NP_003733.2:p.Gly870Val | |
| XM_006712817.2:c.2651G>T | XP_006712880.1:p.Gly884Val | |
| XM_011512077.1:c.2711G>T | XP_011510379.1:p.Gly904Val | |
| XM_011512078.1:c.2711G>T | XP_011510380.1:p.Gly904Val | |
| XM_011512079.1:c.2711G>T | XP_011510381.1:p.Gly904Val | |
| XM_011512080.1:c.2711G>T | XP_011510382.1:p.Gly904Val | |
| XM_011512081.1:c.935G>T | XP_011510383.1:p.Gly312Val | |
| NM_003742.4:c.2609G>T MANE Select | NP_003733.2:p.Gly870Val | |
| XM_006712817.3:c.2651G>T | XP_006712880.1:p.Gly884Val | |
| XM_011512077.2:c.2711G>T | XP_011510379.1:p.Gly904Val | |
| XM_011512078.2:c.2711G>T | XP_011510380.1:p.Gly904Val | |
| XM_011512080.2:c.2711G>T | XP_011510382.1:p.Gly904Val | |
| XM_011512081.2:c.935G>T | XP_011510383.1:p.Gly312Val | |
| XM_017005165.1:c.2711G>T | XP_016860654.1:p.Gly904Val | |
| XM_017005166.1:c.1940G>T | XP_016860655.1:p.Gly647Val | |
| XM_017005167.1:c.1394G>T | XP_016860656.1:p.Gly465Val |