Linked Data
ClinVar Variation Id:
761243
ClinVar RCV Id:
RCV000939271
dbSNP Id:
rs376026671
ExAC:
19:36595475 G / A
gnomAD v2:
19-36595475-G-A
gnomAD v3:
19-36104573-G-A
gnomAD v4:
19-36104573-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36104573G>A , CM000681.2:g.36104573G>A | GRCh38 |
| NC_000019.9:g.36595475G>A , CM000681.1:g.36595475G>A | GRCh37 |
| NC_000019.8:g.41287315G>A | NCBI36 |
| NG_028101.1:g.54693G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.4194G>A | ENSP00000270301.6:p.Pro1398= | |
| ENST00000401500.7:c.4209G>A MANE Select | ENSP00000384792.1:p.Pro1403= | |
| ENST00000587391.6:c.*4069G>A | ENSP00000465525.1:n.*4069G>A | |
| ENST00000679357.1:c.2289G>A | ||
| ENST00000679598.1:c.954G>A | ||
| ENST00000679682.1:c.4194G>A | ENSP00000506226.1:p.Pro1398= | |
| ENST00000679714.1:c.4203G>A | ENSP00000506627.1:p.Pro1401= | |
| ENST00000679757.1:c.3858G>A | ENSP00000505158.1:p.Pro1286= | |
| ENST00000679858.1:c.*3591G>A | ENSP00000505655.1:n.*3591G>A | |
| ENST00000680211.1:c.810G>A | ENSP00000506102.1:p.Pro270= | |
| ENST00000680280.1:n.1712G>A | ||
| ENST00000680349.1:n.2858G>A | ||
| ENST00000680403.1:c.4194G>A | ENSP00000505677.1:p.Pro1398= | |
| ENST00000680564.1:c.3960G>A | ENSP00000505582.1:p.Pro1320= | |
| ENST00000680590.1:c.*2589G>A | ENSP00000505350.1:n.*2589G>A | |
| ENST00000680597.1:c.942G>A | ||
| ENST00000680739.1:c.1224G>A | ||
| ENST00000680773.1:n.2710G>A | ||
| ENST00000680806.1:c.*3512G>A | ENSP00000506418.1:n.*3512G>A | |
| ENST00000680997.1:n.2141G>A | ||
| ENST00000681608.1:n.2054G>A | ||
| ENST00000681625.1:c.*1541G>A | ENSP00000505555.1:n.*1541G>A | |
| ENST00000681648.1:n.2260G>A | ||
| ENST00000270301.11:c.4194G>A | ENSP00000270301.6:p.Pro1398= | |
| ENST00000401500.6:c.4209G>A | ENSP00000384792.1:p.Pro1403= | |
| ENST00000587391.5:c.*4069G>A | ENSP00000465525.1:n.*4069G>A | |
| NM_001083961.1:c.4209G>A | NP_001077430.1:p.Pro1403= | |
| NM_173636.4:c.4194G>A | NP_775907.4:p.Pro1398= | |
| XM_005258809.2:c.4098G>A | XP_005258866.1:p.Pro1366= | |
| XM_011526837.1:c.4194G>A | XP_011525139.1:p.Pro1398= | |
| XM_011526838.1:c.3960G>A | XP_011525140.1:p.Pro1320= | |
| XM_011526839.1:c.3858G>A | XP_011525141.1:p.Pro1286= | |
| XM_011526840.1:c.3201G>A | XP_011525142.1:p.Pro1067= | |
| XM_011526841.1:c.2787G>A | XP_011525143.1:p.Pro929= | |
| XM_011526842.1:c.2640G>A | XP_011525144.1:p.Pro880= | |
| XM_011526843.1:c.1956G>A | XP_011525145.1:p.Pro652= | |
| XM_011526844.1:c.1956G>A | XP_011525146.1:p.Pro652= | |
| XM_011526840.2:c.3201G>A | XP_011525142.1:p.Pro1067= | |
| XM_011526841.2:c.2787G>A | XP_011525143.1:p.Pro929= | |
| XM_011526844.2:c.1956G>A | XP_011525146.1:p.Pro652= | |
| XM_017026665.1:c.4209G>A | XP_016882154.1:p.Pro1403= | |
| NM_001083961.2:c.4209G>A MANE Select | NP_001077430.1:p.Pro1403= | |
| NM_173636.5:c.4194G>A | NP_775907.4:p.Pro1398= |