Linked Data
ClinVar Variation Id:
2274922
ClinVar RCV Id:
RCV002817598
dbSNP Id:
rs1001365242
gnomAD v2:
19-36595530-C-G
gnomAD v4:
19-36104628-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36104628C>G , CM000681.2:g.36104628C>G | GRCh38 |
| NC_000019.9:g.36595530C>G , CM000681.1:g.36595530C>G | GRCh37 |
| NC_000019.8:g.41287370C>G | NCBI36 |
| NG_028101.1:g.54748C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.4249C>G | ENSP00000270301.6:p.His1417Asp | |
| ENST00000401500.7:c.4264C>G MANE Select | ENSP00000384792.1:p.His1422Asp | |
| ENST00000587391.6:c.*4124C>G | ENSP00000465525.1:n.*4124C>G | |
| ENST00000679357.1:c.2344C>G | ||
| ENST00000679598.1:c.1009C>G | ||
| ENST00000679682.1:c.4249C>G | ENSP00000506226.1:p.His1417Asp | |
| ENST00000679714.1:c.4258C>G | ENSP00000506627.1:p.His1420Asp | |
| ENST00000679757.1:c.3913C>G | ENSP00000505158.1:p.His1305Asp | |
| ENST00000679858.1:c.*3646C>G | ENSP00000505655.1:n.*3646C>G | |
| ENST00000680211.1:c.865C>G | ENSP00000506102.1:p.His289Asp | |
| ENST00000680280.1:n.1767C>G | ||
| ENST00000680349.1:n.2913C>G | ||
| ENST00000680403.1:c.4249C>G | ENSP00000505677.1:p.His1417Asp | |
| ENST00000680564.1:c.4015C>G | ENSP00000505582.1:p.His1339Asp | |
| ENST00000680590.1:c.*2644C>G | ENSP00000505350.1:n.*2644C>G | |
| ENST00000680597.1:c.997C>G | ||
| ENST00000680739.1:c.1279C>G | ||
| ENST00000680773.1:n.2765C>G | ||
| ENST00000680806.1:c.*3567C>G | ENSP00000506418.1:n.*3567C>G | |
| ENST00000680997.1:n.2196C>G | ||
| ENST00000681608.1:n.2109C>G | ||
| ENST00000681625.1:c.*1596C>G | ENSP00000505555.1:n.*1596C>G | |
| ENST00000681648.1:n.2315C>G | ||
| ENST00000270301.11:c.4249C>G | ENSP00000270301.6:p.His1417Asp | |
| ENST00000401500.6:c.4264C>G | ENSP00000384792.1:p.His1422Asp | |
| ENST00000587391.5:c.*4124C>G | ENSP00000465525.1:n.*4124C>G | |
| NM_001083961.1:c.4264C>G | NP_001077430.1:p.His1422Asp | |
| NM_173636.4:c.4249C>G | NP_775907.4:p.His1417Asp | |
| XM_005258809.2:c.4153C>G | XP_005258866.1:p.His1385Asp | |
| XM_011526837.1:c.4249C>G | XP_011525139.1:p.His1417Asp | |
| XM_011526838.1:c.4015C>G | XP_011525140.1:p.His1339Asp | |
| XM_011526839.1:c.3913C>G | XP_011525141.1:p.His1305Asp | |
| XM_011526840.1:c.3256C>G | XP_011525142.1:p.His1086Asp | |
| XM_011526841.1:c.2842C>G | XP_011525143.1:p.His948Asp | |
| XM_011526842.1:c.2695C>G | XP_011525144.1:p.His899Asp | |
| XM_011526843.1:c.2011C>G | XP_011525145.1:p.His671Asp | |
| XM_011526844.1:c.2011C>G | XP_011525146.1:p.His671Asp | |
| XM_011526840.2:c.3256C>G | XP_011525142.1:p.His1086Asp | |
| XM_011526841.2:c.2842C>G | XP_011525143.1:p.His948Asp | |
| XM_011526844.2:c.2011C>G | XP_011525146.1:p.His671Asp | |
| XM_017026665.1:c.4264C>G | XP_016882154.1:p.His1422Asp | |
| NM_001083961.2:c.4264C>G MANE Select | NP_001077430.1:p.His1422Asp | |
| NM_173636.5:c.4249C>G | NP_775907.4:p.His1417Asp |