Linked Data
dbSNP Id:
rs146278028
gnomAD v2:
19-36592732-G-A
gnomAD v3:
19-36101830-G-A
gnomAD v4:
19-36101830-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36101830G>A , CM000681.2:g.36101830G>A | GRCh38 |
| NC_000019.9:g.36592732G>A , CM000681.1:g.36592732G>A | GRCh37 |
| NC_000019.8:g.41284572G>A | NCBI36 |
| NG_028101.1:g.51950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3082+56G>A | ENSP00000270301.6:n.3082+56G>A | |
| ENST00000401500.7:c.3082+56G>A MANE Select | ENSP00000384792.1:n.3082+56G>A | |
| ENST00000587391.6:c.*2174G>A | ENSP00000465525.1:n.*2174G>A | |
| ENST00000679357.1:c.872+56G>A | ||
| ENST00000679422.1:c.762-184G>A | ||
| ENST00000679682.1:c.3067+56G>A | ENSP00000506226.1:n.3067+56G>A | |
| ENST00000679714.1:c.3076+56G>A | ENSP00000506627.1:n.3076+56G>A | |
| ENST00000679757.1:c.2731+56G>A | ENSP00000505158.1:n.2731+56G>A | |
| ENST00000679858.1:c.*2281G>A | ENSP00000505655.1:n.*2281G>A | |
| ENST00000680211.1:c.-318+56G>A | ENSP00000506102.1:n.-318+56G>A | |
| ENST00000680349.1:n.1065+56G>A | ||
| ENST00000680403.1:c.3082+56G>A | ENSP00000505677.1:n.3082+56G>A | |
| ENST00000680564.1:c.2971+513G>A | ENSP00000505582.1:n.2971+513G>A | |
| ENST00000680590.1:c.*1477+56G>A | ENSP00000505350.1:n.*1477+56G>A | |
| ENST00000680773.1:n.815G>A | ||
| ENST00000680806.1:c.*1801-184G>A | ENSP00000506418.1:n.*1801-184G>A | |
| ENST00000680997.1:n.429+56G>A | ||
| ENST00000681088.1:c.744+56G>A | ||
| ENST00000681608.1:n.30+56G>A | ||
| ENST00000681625.1:c.*414+56G>A | ENSP00000505555.1:n.*414+56G>A | |
| ENST00000270301.11:c.3082+56G>A | ENSP00000270301.6:n.3082+56G>A | |
| ENST00000401500.6:c.3082+56G>A | ENSP00000384792.1:n.3082+56G>A | |
| ENST00000587391.5:c.*2174G>A | ENSP00000465525.1:n.*2174G>A | |
| NM_001083961.1:c.3082+56G>A | NP_001077430.1:n.3082+56G>A | |
| NM_173636.4:c.3082+56G>A | NP_775907.4:n.3082+56G>A | |
| XM_005258809.2:c.2972-184G>A | XP_005258866.1:n.2972-184G>A | |
| XM_011526837.1:c.3067+56G>A | XP_011525139.1:n.3067+56G>A | |
| XM_011526838.1:c.2971+513G>A | XP_011525140.1:n.2971+513G>A | |
| XM_011526839.1:c.2731+56G>A | XP_011525141.1:n.2731+56G>A | |
| XM_011526840.1:c.2074+56G>A | XP_011525142.1:n.2074+56G>A | |
| XM_011526841.1:c.1660+56G>A | XP_011525143.1:n.1660+56G>A | |
| XM_011526842.1:c.1513+56G>A | XP_011525144.1:n.1513+56G>A | |
| XM_011526843.1:c.829+56G>A | XP_011525145.1:n.829+56G>A | |
| XM_011526844.1:c.829+56G>A | XP_011525146.1:n.829+56G>A | |
| XM_011526840.2:c.2074+56G>A | XP_011525142.1:n.2074+56G>A | |
| XM_011526841.2:c.1660+56G>A | XP_011525143.1:n.1660+56G>A | |
| XM_011526844.2:c.829+56G>A | XP_011525146.1:n.829+56G>A | |
| XM_017026665.1:c.3082+56G>A | XP_016882154.1:n.3082+56G>A | |
| NM_001083961.2:c.3082+56G>A MANE Select | NP_001077430.1:n.3082+56G>A | |
| NM_173636.5:c.3082+56G>A | NP_775907.4:n.3082+56G>A |