Linked Data
ClinVar Variation Id:
160278
dbSNP Id:
rs118175551
ExAC:
19:36592627 G / A
gnomAD v2:
19-36592627-G-A
gnomAD v3:
19-36101725-G-A
gnomAD v4:
19-36101725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36101725G>A , CM000681.2:g.36101725G>A | GRCh38 |
| NC_000019.9:g.36592627G>A , CM000681.1:g.36592627G>A | GRCh37 |
| NC_000019.8:g.41284467G>A | NCBI36 |
| NG_028101.1:g.51845G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270301.12:c.3033G>A | ENSP00000270301.6:p.Pro1011= | |
| ENST00000401500.7:c.3033G>A MANE Select | ENSP00000384792.1:p.Pro1011= | |
| ENST00000587391.6:c.*2069G>A | ENSP00000465525.1:n.*2069G>A | |
| ENST00000679357.1:c.823G>A | ||
| ENST00000679422.1:c.762-289G>A | ||
| ENST00000679682.1:c.3018G>A | ENSP00000506226.1:p.Pro1006= | |
| ENST00000679714.1:c.3027G>A | ENSP00000506627.1:p.Pro1009= | |
| ENST00000679757.1:c.2682G>A | ENSP00000505158.1:p.Pro894= | |
| ENST00000679858.1:c.*2176G>A | ENSP00000505655.1:n.*2176G>A | |
| ENST00000680211.1:c.-367G>A | ENSP00000506102.1:n.-367G>A | |
| ENST00000680349.1:n.1016G>A | ||
| ENST00000680403.1:c.3033G>A | ENSP00000505677.1:p.Pro1011= | |
| ENST00000680564.1:c.2971+408G>A | ENSP00000505582.1:n.2971+408G>A | |
| ENST00000680590.1:c.*1428G>A | ENSP00000505350.1:n.*1428G>A | |
| ENST00000680773.1:n.710G>A | ||
| ENST00000680806.1:c.*1801-289G>A | ENSP00000506418.1:n.*1801-289G>A | |
| ENST00000680997.1:n.380G>A | ||
| ENST00000681088.1:c.695G>A | ||
| ENST00000681625.1:c.*365G>A | ENSP00000505555.1:n.*365G>A | |
| ENST00000270301.11:c.3033G>A | ENSP00000270301.6:p.Pro1011= | |
| ENST00000401500.6:c.3033G>A | ENSP00000384792.1:p.Pro1011= | |
| ENST00000587391.5:c.*2069G>A | ENSP00000465525.1:n.*2069G>A | |
| NM_001083961.1:c.3033G>A | NP_001077430.1:p.Pro1011= | |
| NM_173636.4:c.3033G>A | NP_775907.4:p.Pro1011= | |
| XM_005258809.2:c.2972-289G>A | XP_005258866.1:n.2972-289G>A | |
| XM_011526837.1:c.3018G>A | XP_011525139.1:p.Pro1006= | |
| XM_011526838.1:c.2971+408G>A | XP_011525140.1:n.2971+408G>A | |
| XM_011526839.1:c.2682G>A | XP_011525141.1:p.Pro894= | |
| XM_011526840.1:c.2025G>A | XP_011525142.1:p.Pro675= | |
| XM_011526841.1:c.1611G>A | XP_011525143.1:p.Pro537= | |
| XM_011526842.1:c.1464G>A | XP_011525144.1:p.Pro488= | |
| XM_011526843.1:c.780G>A | XP_011525145.1:p.Pro260= | |
| XM_011526844.1:c.780G>A | XP_011525146.1:p.Pro260= | |
| XM_011526840.2:c.2025G>A | XP_011525142.1:p.Pro675= | |
| XM_011526841.2:c.1611G>A | XP_011525143.1:p.Pro537= | |
| XM_011526844.2:c.780G>A | XP_011525146.1:p.Pro260= | |
| XM_017026665.1:c.3033G>A | XP_016882154.1:p.Pro1011= | |
| NM_001083961.2:c.3033G>A MANE Select | NP_001077430.1:p.Pro1011= | |
| NM_173636.5:c.3033G>A | NP_775907.4:p.Pro1011= |