Linked Data
dbSNP Id:
rs372324505
ExAC:
11:126144898 G / A
gnomAD v2:
11-126144898-G-A
gnomAD v4:
11-126275003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275003G>A , CM000673.2:g.126275003G>A | GRCh38 |
| NC_000011.9:g.126144898G>A , CM000673.1:g.126144898G>A | GRCh37 |
| NC_000011.8:g.125650108G>A | NCBI36 |
| NG_028029.1:g.10964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.791G>A | ||
| ENST00000532101.6:n.734-324G>A | ||
| ENST00000532125.2:c.610G>A | ENSP00000434178.2:p.Val204Met | |
| ENST00000533839.6:c.86-791G>A | ENSP00000509952.1:n.86-791G>A | |
| ENST00000534011.6:n.905G>A | ||
| ENST00000685484.1:c.613G>A | ENSP00000510622.1:p.Val205Met | |
| ENST00000685601.1:c.613G>A | ENSP00000510603.1:p.Val205Met | |
| ENST00000685765.1:c.613G>A | ENSP00000509991.1:p.Val205Met | |
| ENST00000685844.1:c.*169-324G>A | ENSP00000509820.1:n.*169-324G>A | |
| ENST00000685857.1:n.1047G>A | ||
| ENST00000686242.1:c.412G>A | ENSP00000508950.1:n.412G>A | |
| ENST00000686888.1:c.*180G>A | ENSP00000509619.1:n.*180G>A | |
| ENST00000687699.1:c.737G>A | ENSP00000508878.1:n.737G>A | |
| ENST00000687786.1:n.2068-324G>A | ||
| ENST00000688100.1:n.1534G>A | ||
| ENST00000688588.1:c.613G>A | ENSP00000510802.1:p.Val205Met | |
| ENST00000688927.1:n.2519G>A | ||
| ENST00000689283.1:c.*276G>A | ENSP00000509050.1:n.*276G>A | |
| ENST00000689477.1:c.*506G>A | ENSP00000508945.1:n.*506G>A | |
| ENST00000689765.1:c.*169-368G>A | ENSP00000509625.1:n.*169-368G>A | |
| ENST00000690512.1:c.*464G>A | ENSP00000509793.1:n.*464G>A | |
| ENST00000692039.1:c.*411G>A | ENSP00000508821.1:n.*411G>A | |
| ENST00000692336.1:c.637G>A | ENSP00000508540.1:p.Val213Met | |
| ENST00000693133.1:n.788G>A | ||
| ENST00000263578.10:c.613G>A MANE Select | ENSP00000263578.5:p.Val205Met | |
| ENST00000263578.9:c.613G>A | ENSP00000263578.5:p.Val205Met | |
| ENST00000524751.5:n.549G>A | ||
| ENST00000525083.5:n.352-324G>A | ||
| ENST00000525770.5:c.*245G>A | ENSP00000434739.1:n.*245G>A | |
| ENST00000526366.5:n.544G>A | ||
| ENST00000527004.5:c.534-324G>A | ENSP00000436374.1:n.534-324G>A | |
| ENST00000527875.1:n.443G>A | ||
| ENST00000530642.1:n.1090G>A | ||
| ENST00000532101.5:n.836G>A | ||
| ENST00000532125.1:c.571G>A | ENSP00000434178.1:p.Val191Met | |
| ENST00000533395.5:n.365-324G>A | ||
| ENST00000533839.5:n.238-791G>A | ||
| ENST00000534011.5:n.665G>A | ||
| ENST00000534315.5:n.944-324G>A | ||
| NM_017547.3:c.613G>A | NP_060017.1:p.Val205Met | |
| NR_037647.1:n.559G>A | ||
| NR_037648.1:n.799G>A | ||
| XM_006718879.2:c.103G>A | XP_006718942.1:p.Val35Met | |
| XM_006718880.2:c.-2-324G>A | XP_006718943.1:n.-2-324G>A | |
| XM_006718881.2:c.-2-324G>A | XP_006718944.1:n.-2-324G>A | |
| XM_011542895.1:c.103G>A | XP_011541197.1:p.Val35Met | |
| XM_011542896.1:c.103G>A | XP_011541198.1:p.Val35Met | |
| XM_006718879.3:c.103G>A | XP_006718942.1:p.Val35Met | |
| XM_006718881.3:c.-2-324G>A | XP_006718944.1:n.-2-324G>A | |
| XM_011542895.2:c.103G>A | XP_011541197.1:p.Val35Met | |
| XM_011542896.2:c.103G>A | XP_011541198.1:p.Val35Met | |
| XM_017018000.2:c.613G>A | XP_016873489.1:p.Val205Met | |
| XM_017018001.1:c.103G>A | XP_016873490.1:p.Val35Met | |
| XM_017018002.1:c.103G>A | XP_016873491.1:p.Val35Met | |
| XM_017018003.2:c.-2-324G>A | XP_016873492.1:n.-2-324G>A | |
| XM_017018004.1:c.-2-324G>A | XP_016873493.1:n.-2-324G>A | |
| XM_017018005.1:c.-2-324G>A | XP_016873494.1:n.-2-324G>A | |
| XM_017018006.2:c.-2-324G>A | XP_016873495.1:n.-2-324G>A | |
| NM_017547.4:c.613G>A MANE Select | NP_060017.1:p.Val205Met | |
| NR_037647.2:n.445G>A | ||
| NR_037648.2:n.790G>A |