Linked Data
ClinVar Variation Id:
2484711
ClinVar RCV Id:
RCV003217141
dbSNP Id:
rs370416793
gnomAD v2:
19-36592604-G-C
gnomAD v4:
19-36101702-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36101702G>C , CM000681.2:g.36101702G>C | GRCh38 |
| NC_000019.9:g.36592604G>C , CM000681.1:g.36592604G>C | GRCh37 |
| NC_000019.8:g.41284444G>C | NCBI36 |
| NG_028101.1:g.51822G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3010G>C | ENSP00000270301.6:p.Ala1004Pro | |
| ENST00000401500.7:c.3010G>C MANE Select | ENSP00000384792.1:p.Ala1004Pro | |
| ENST00000587391.6:c.*2046G>C | ENSP00000465525.1:n.*2046G>C | |
| ENST00000679357.1:c.800G>C | ||
| ENST00000679422.1:c.762-312G>C | ||
| ENST00000679682.1:c.2995G>C | ENSP00000506226.1:p.Ala999Pro | |
| ENST00000679714.1:c.3004G>C | ENSP00000506627.1:p.Ala1002Pro | |
| ENST00000679757.1:c.2659G>C | ENSP00000505158.1:p.Ala887Pro | |
| ENST00000679858.1:c.*2153G>C | ENSP00000505655.1:n.*2153G>C | |
| ENST00000680211.1:c.-390G>C | ENSP00000506102.1:n.-390G>C | |
| ENST00000680349.1:n.993G>C | ||
| ENST00000680403.1:c.3010G>C | ENSP00000505677.1:p.Ala1004Pro | |
| ENST00000680564.1:c.2971+385G>C | ENSP00000505582.1:n.2971+385G>C | |
| ENST00000680590.1:c.*1405G>C | ENSP00000505350.1:n.*1405G>C | |
| ENST00000680773.1:n.687G>C | ||
| ENST00000680806.1:c.*1801-312G>C | ENSP00000506418.1:n.*1801-312G>C | |
| ENST00000680997.1:n.357G>C | ||
| ENST00000681088.1:c.672G>C | ||
| ENST00000681625.1:c.*342G>C | ENSP00000505555.1:n.*342G>C | |
| ENST00000270301.11:c.3010G>C | ENSP00000270301.6:p.Ala1004Pro | |
| ENST00000401500.6:c.3010G>C | ENSP00000384792.1:p.Ala1004Pro | |
| ENST00000587391.5:c.*2046G>C | ENSP00000465525.1:n.*2046G>C | |
| NM_001083961.1:c.3010G>C | NP_001077430.1:p.Ala1004Pro | |
| NM_173636.4:c.3010G>C | NP_775907.4:p.Ala1004Pro | |
| XM_005258809.2:c.2972-312G>C | XP_005258866.1:n.2972-312G>C | |
| XM_011526837.1:c.2995G>C | XP_011525139.1:p.Ala999Pro | |
| XM_011526838.1:c.2971+385G>C | XP_011525140.1:n.2971+385G>C | |
| XM_011526839.1:c.2659G>C | XP_011525141.1:p.Ala887Pro | |
| XM_011526840.1:c.2002G>C | XP_011525142.1:p.Ala668Pro | |
| XM_011526841.1:c.1588G>C | XP_011525143.1:p.Ala530Pro | |
| XM_011526842.1:c.1441G>C | XP_011525144.1:p.Ala481Pro | |
| XM_011526843.1:c.757G>C | XP_011525145.1:p.Ala253Pro | |
| XM_011526844.1:c.757G>C | XP_011525146.1:p.Ala253Pro | |
| XM_011526840.2:c.2002G>C | XP_011525142.1:p.Ala668Pro | |
| XM_011526841.2:c.1588G>C | XP_011525143.1:p.Ala530Pro | |
| XM_011526844.2:c.757G>C | XP_011525146.1:p.Ala253Pro | |
| XM_017026665.1:c.3010G>C | XP_016882154.1:p.Ala1004Pro | |
| NM_001083961.2:c.3010G>C MANE Select | NP_001077430.1:p.Ala1004Pro | |
| NM_173636.5:c.3010G>C | NP_775907.4:p.Ala1004Pro |