Linked Data
ClinVar Variation Id:
328925
ClinVar RCV Id:
RCV000262539
dbSNP Id:
rs886054361
gnomAD v4:
19-36102972-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102972G>A , CM000681.2:g.36102972G>A | GRCh38 |
| NC_000019.9:g.36593874G>A , CM000681.1:g.36593874G>A | GRCh37 |
| NC_000019.8:g.41285714G>A | NCBI36 |
| NG_028101.1:g.53092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3345G>A | ENSP00000270301.6:p.Arg1115= | |
| ENST00000401500.7:c.3360G>A MANE Select | ENSP00000384792.1:p.Arg1120= | |
| ENST00000587391.6:c.*3220G>A | ENSP00000465525.1:n.*3220G>A | |
| ENST00000679357.1:c.1440G>A | ||
| ENST00000679598.1:c.125G>A | ||
| ENST00000679682.1:c.3345G>A | ENSP00000506226.1:p.Arg1115= | |
| ENST00000679714.1:c.3354G>A | ENSP00000506627.1:p.Arg1118= | |
| ENST00000679757.1:c.3009G>A | ENSP00000505158.1:p.Arg1003= | |
| ENST00000679858.1:c.*2742G>A | ENSP00000505655.1:n.*2742G>A | |
| ENST00000680211.1:c.-40G>A | ENSP00000506102.1:n.-40G>A | |
| ENST00000680280.1:n.647G>A | ||
| ENST00000680349.1:n.1928G>A | ||
| ENST00000680403.1:c.3345G>A | ENSP00000505677.1:p.Arg1115= | |
| ENST00000680564.1:c.3111G>A | ENSP00000505582.1:p.Arg1037= | |
| ENST00000680590.1:c.*1740G>A | ENSP00000505350.1:n.*1740G>A | |
| ENST00000680597.1:c.125G>A | ||
| ENST00000680739.1:c.375G>A | ||
| ENST00000680773.1:n.1861G>A | ||
| ENST00000680806.1:c.*2663G>A | ENSP00000506418.1:n.*2663G>A | |
| ENST00000680997.1:n.1292G>A | ||
| ENST00000681608.1:n.989G>A | ||
| ENST00000681625.1:c.*692G>A | ENSP00000505555.1:n.*692G>A | |
| ENST00000681648.1:n.659G>A | ||
| ENST00000270301.11:c.3345G>A | ENSP00000270301.6:p.Arg1115= | |
| ENST00000401500.6:c.3360G>A | ENSP00000384792.1:p.Arg1120= | |
| ENST00000587391.5:c.*3220G>A | ENSP00000465525.1:n.*3220G>A | |
| NM_001083961.1:c.3360G>A | NP_001077430.1:p.Arg1120= | |
| NM_173636.4:c.3345G>A | NP_775907.4:p.Arg1115= | |
| XM_005258809.2:c.3249G>A | XP_005258866.1:p.Arg1083= | |
| XM_011526837.1:c.3345G>A | XP_011525139.1:p.Arg1115= | |
| XM_011526838.1:c.3111G>A | XP_011525140.1:p.Arg1037= | |
| XM_011526839.1:c.3009G>A | XP_011525141.1:p.Arg1003= | |
| XM_011526840.1:c.2352G>A | XP_011525142.1:p.Arg784= | |
| XM_011526841.1:c.1938G>A | XP_011525143.1:p.Arg646= | |
| XM_011526842.1:c.1791G>A | XP_011525144.1:p.Arg597= | |
| XM_011526843.1:c.1107G>A | XP_011525145.1:p.Arg369= | |
| XM_011526844.1:c.1107G>A | XP_011525146.1:p.Arg369= | |
| XM_011526840.2:c.2352G>A | XP_011525142.1:p.Arg784= | |
| XM_011526841.2:c.1938G>A | XP_011525143.1:p.Arg646= | |
| XM_011526844.2:c.1107G>A | XP_011525146.1:p.Arg369= | |
| XM_017026665.1:c.3360G>A | XP_016882154.1:p.Arg1120= | |
| NM_001083961.2:c.3360G>A MANE Select | NP_001077430.1:p.Arg1120= | |
| NM_173636.5:c.3345G>A | NP_775907.4:p.Arg1115= |