Linked Data
dbSNP Id:
rs1488564
gnomAD v2:
3-173453868-A-T
gnomAD v3:
3-173736078-A-T
gnomAD v4:
3-173736078-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.173736078A>T , CM000665.2:g.173736078A>T | GRCh38 |
| NC_000003.11:g.173453868A>T , CM000665.1:g.173453868A>T | GRCh37 |
| NC_000003.10:g.174936562A>T | NCBI36 |
| NG_046919.2:g.345180A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415045.2:c.554-64215A>T | ENSP00000410374.2:n.554-64215A>T | |
| ENST00000695368.1:c.554-71602A>T MANE Select | ENSP00000511841.1:n.554-71602A>T | |
| ENST00000361589.8:c.494-71602A>T | ENSP00000354541.4:n.494-71602A>T | |
| ENST00000415045.1:c.554-64215A>T | ENSP00000410374.1:n.554-64215A>T | |
| ENST00000457714.5:c.494-71602A>T | ENSP00000392500.1:n.494-71602A>T | |
| NM_014932.3:c.494-71602A>T | NP_055747.1:n.494-71602A>T | |
| XM_005247232.1:c.494-64215A>T | XP_005247289.1:n.494-64215A>T | |
| XM_005247233.1:c.494-64215A>T | XP_005247290.1:n.494-64215A>T | |
| XM_005247234.1:c.494-71602A>T | XP_005247291.1:n.494-71602A>T | |
| XM_005247235.2:c.494-71602A>T | XP_005247292.1:n.494-71602A>T | |
| XM_005247236.1:c.494-71602A>T | XP_005247293.1:n.494-71602A>T | |
| XM_005247237.2:c.37+50287A>T | XP_005247294.1:n.37+50287A>T | |
| XM_006713540.2:c.494-64215A>T | XP_006713603.1:n.494-64215A>T | |
| XM_011512551.1:c.494-64215A>T | XP_011510853.1:n.494-64215A>T | |
| XM_011512552.1:c.494-64215A>T | XP_011510854.1:n.494-64215A>T | |
| NM_001365923.1:c.494-64215A>T | NP_001352852.1:n.494-64215A>T | |
| NM_001365924.1:c.554-71602A>T | NP_001352853.1:n.554-71602A>T | |
| NM_001365925.1:c.554-71602A>T | NP_001352854.1:n.554-71602A>T | |
| NM_001365926.1:c.554-71602A>T | NP_001352855.1:n.554-71602A>T | |
| NM_001365927.1:c.494-64215A>T | NP_001352856.1:n.494-64215A>T | |
| NM_001365928.1:c.554-71602A>T | NP_001352857.1:n.554-71602A>T | |
| NM_001365929.1:c.494-71602A>T | NP_001352858.1:n.494-71602A>T | |
| NM_001365930.1:c.494-71602A>T | NP_001352859.1:n.494-71602A>T | |
| NM_001365931.1:c.494-71602A>T | NP_001352860.1:n.494-71602A>T | |
| NM_001365932.1:c.494-71602A>T | NP_001352861.1:n.494-71602A>T | |
| NM_001365933.1:c.494-71602A>T | NP_001352862.1:n.494-71602A>T | |
| NM_001365934.1:c.494-71602A>T | NP_001352863.1:n.494-71602A>T | |
| NM_001365935.1:c.494-71602A>T | NP_001352864.1:n.494-71602A>T | |
| NM_001365936.1:c.494-71602A>T | NP_001352865.1:n.494-71602A>T | |
| NM_014932.4:c.494-71602A>T | NP_055747.1:n.494-71602A>T | |
| XM_005247237.3:c.37+50287A>T | XP_005247294.1:n.37+50287A>T | |
| XM_011512551.2:c.494-64215A>T | XP_011510853.1:n.494-64215A>T | |
| XM_017005888.1:c.494-64215A>T | XP_016861377.1:n.494-64215A>T | |
| XM_017005893.1:c.494-64215A>T | XP_016861382.1:n.494-64215A>T | |
| XM_017005894.1:c.494-64215A>T | XP_016861383.1:n.494-64215A>T | |
| XM_017005895.2:c.494-64215A>T | XP_016861384.1:n.494-64215A>T | |
| XM_017005896.1:c.494-64215A>T | XP_016861385.1:n.494-64215A>T | |
| XM_017005897.1:c.494-64215A>T | XP_016861386.1:n.494-64215A>T | |
| XM_017005900.1:c.494-71602A>T | XP_016861389.1:n.494-71602A>T | |
| XM_017005902.1:c.494-71602A>T | XP_016861391.1:n.494-71602A>T | |
| XR_924728.3:n.2142T>A | ||
| NM_001365923.2:c.494-64215A>T | NP_001352852.1:n.494-64215A>T | |
| NM_001365924.2:c.554-71602A>T | NP_001352853.1:n.554-71602A>T | |
| NM_001365925.2:c.554-71602A>T MANE Select | NP_001352854.1:n.554-71602A>T | |
| NM_001365926.2:c.554-71602A>T | NP_001352855.1:n.554-71602A>T | |
| NM_001365927.2:c.494-64215A>T | NP_001352856.1:n.494-64215A>T | |
| NM_001365928.2:c.554-71602A>T | NP_001352857.1:n.554-71602A>T | |
| NM_001365929.2:c.494-71602A>T | NP_001352858.1:n.494-71602A>T | |
| NM_001365930.2:c.494-71602A>T | NP_001352859.1:n.494-71602A>T | |
| NM_001365931.2:c.494-71602A>T | NP_001352860.1:n.494-71602A>T | |
| NM_001365932.2:c.494-71602A>T | NP_001352861.1:n.494-71602A>T | |
| NM_001365933.2:c.494-71602A>T | NP_001352862.1:n.494-71602A>T | |
| NM_001365934.2:c.494-71602A>T | NP_001352863.1:n.494-71602A>T | |
| NM_001365935.2:c.494-71602A>T | NP_001352864.1:n.494-71602A>T | |
| NM_001365936.2:c.494-71602A>T | NP_001352865.1:n.494-71602A>T | |
| NM_014932.5:c.494-71602A>T | NP_055747.1:n.494-71602A>T |