Linked Data
dbSNP Id:
rs751173715
ExAC:
11:126144869 A / T
gnomAD v2:
11-126144869-A-T
gnomAD v4:
11-126274974-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126274974A>T , CM000673.2:g.126274974A>T | GRCh38 |
| NC_000011.9:g.126144869A>T , CM000673.1:g.126144869A>T | GRCh37 |
| NC_000011.8:g.125650079A>T | NCBI36 |
| NG_028029.1:g.10935A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.762A>T | ||
| ENST00000532101.6:n.734-353A>T | ||
| ENST00000532125.2:c.581A>T | ENSP00000434178.2:p.Asn194Ile | |
| ENST00000533839.6:c.86-820A>T | ENSP00000509952.1:n.86-820A>T | |
| ENST00000534011.6:n.876A>T | ||
| ENST00000685484.1:c.584A>T | ENSP00000510622.1:p.Asn195Ile | |
| ENST00000685601.1:c.584A>T | ENSP00000510603.1:p.Asn195Ile | |
| ENST00000685765.1:c.584A>T | ENSP00000509991.1:p.Asn195Ile | |
| ENST00000685844.1:c.*169-353A>T | ENSP00000509820.1:n.*169-353A>T | |
| ENST00000685857.1:n.1018A>T | ||
| ENST00000686242.1:c.383A>T | ENSP00000508950.1:n.383A>T | |
| ENST00000686888.1:c.*151A>T | ENSP00000509619.1:n.*151A>T | |
| ENST00000687699.1:c.708A>T | ENSP00000508878.1:n.708A>T | |
| ENST00000687786.1:n.2068-353A>T | ||
| ENST00000688100.1:n.1505A>T | ||
| ENST00000688588.1:c.584A>T | ENSP00000510802.1:p.Asn195Ile | |
| ENST00000688927.1:n.2490A>T | ||
| ENST00000689283.1:c.*247A>T | ENSP00000509050.1:n.*247A>T | |
| ENST00000689477.1:c.*477A>T | ENSP00000508945.1:n.*477A>T | |
| ENST00000689765.1:c.*169-397A>T | ENSP00000509625.1:n.*169-397A>T | |
| ENST00000690512.1:c.*435A>T | ENSP00000509793.1:n.*435A>T | |
| ENST00000692039.1:c.*382A>T | ENSP00000508821.1:n.*382A>T | |
| ENST00000692336.1:c.608A>T | ENSP00000508540.1:p.Asn203Ile | |
| ENST00000693133.1:n.759A>T | ||
| ENST00000263578.10:c.584A>T MANE Select | ENSP00000263578.5:p.Asn195Ile | |
| ENST00000263578.9:c.584A>T | ENSP00000263578.5:p.Asn195Ile | |
| ENST00000524751.5:n.520A>T | ||
| ENST00000525083.5:n.352-353A>T | ||
| ENST00000525770.5:c.*216A>T | ENSP00000434739.1:n.*216A>T | |
| ENST00000526366.5:n.515A>T | ||
| ENST00000527004.5:c.534-353A>T | ENSP00000436374.1:n.534-353A>T | |
| ENST00000527875.1:n.414A>T | ||
| ENST00000530642.1:n.1061A>T | ||
| ENST00000532101.5:n.807A>T | ||
| ENST00000532125.1:c.542A>T | ENSP00000434178.1:p.Asn181Ile | |
| ENST00000533395.5:n.365-353A>T | ||
| ENST00000533839.5:n.238-820A>T | ||
| ENST00000534011.5:n.636A>T | ||
| ENST00000534315.5:n.944-353A>T | ||
| NM_017547.3:c.584A>T | NP_060017.1:p.Asn195Ile | |
| NR_037647.1:n.530A>T | ||
| NR_037648.1:n.770A>T | ||
| XM_006718879.2:c.74A>T | XP_006718942.1:p.Asn25Ile | |
| XM_006718880.2:c.-2-353A>T | XP_006718943.1:n.-2-353A>T | |
| XM_006718881.2:c.-2-353A>T | XP_006718944.1:n.-2-353A>T | |
| XM_011542895.1:c.74A>T | XP_011541197.1:p.Asn25Ile | |
| XM_011542896.1:c.74A>T | XP_011541198.1:p.Asn25Ile | |
| XM_006718879.3:c.74A>T | XP_006718942.1:p.Asn25Ile | |
| XM_006718881.3:c.-2-353A>T | XP_006718944.1:n.-2-353A>T | |
| XM_011542895.2:c.74A>T | XP_011541197.1:p.Asn25Ile | |
| XM_011542896.2:c.74A>T | XP_011541198.1:p.Asn25Ile | |
| XM_017018000.2:c.584A>T | XP_016873489.1:p.Asn195Ile | |
| XM_017018001.1:c.74A>T | XP_016873490.1:p.Asn25Ile | |
| XM_017018002.1:c.74A>T | XP_016873491.1:p.Asn25Ile | |
| XM_017018003.2:c.-2-353A>T | XP_016873492.1:n.-2-353A>T | |
| XM_017018004.1:c.-2-353A>T | XP_016873493.1:n.-2-353A>T | |
| XM_017018005.1:c.-2-353A>T | XP_016873494.1:n.-2-353A>T | |
| XM_017018006.2:c.-2-353A>T | XP_016873495.1:n.-2-353A>T | |
| NM_017547.4:c.584A>T MANE Select | NP_060017.1:p.Asn195Ile | |
| NR_037647.2:n.416A>T | ||
| NR_037648.2:n.761A>T |