Linked Data
ClinVar Variation Id:
466266
ClinVar RCV Id:
RCV000549067
dbSNP Id:
rs139125633
ExAC:
19:40761070 G / A
gnomAD v2:
19-40761070-G-A
gnomAD v3:
19-40255163-G-A
gnomAD v4:
19-40255163-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40255163G>A , CM000681.2:g.40255163G>A | GRCh38 |
| NC_000019.9:g.40761070G>A , CM000681.1:g.40761070G>A | GRCh37 |
| NC_000019.8:g.45452910G>A | NCBI36 |
| NG_012038.2:g.35196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392038.7:c.282C>T MANE Select | ENSP00000375892.2:p.Asp94= | |
| ENST00000487537.3:n.387C>T | ||
| ENST00000578615.6:c.227C>T | ||
| ENST00000672879.1:n.424C>T | ||
| ENST00000672890.1:c.282C>T | ENSP00000500412.1:p.Asp94= | |
| ENST00000311278.10:c.282C>T | ENSP00000309428.6:p.Asp94= | |
| ENST00000358335.9:c.312C>T | ENSP00000351095.5:p.Asp104= | |
| ENST00000391844.8:c.106C>T | ENSP00000375719.4:p.Arg36Ter | |
| ENST00000392037.5:c.282C>T | ENSP00000375891.1:p.Asp94= | |
| ENST00000392038.6:c.282C>T | ENSP00000375892.2:p.Asp94= | |
| ENST00000416362.5:c.282C>T | ENSP00000407999.1:p.Asp94= | |
| ENST00000416994.6:c.282C>T | ENSP00000392458.2:p.Asp94= | |
| ENST00000423127.5:c.282C>T | ENSP00000403842.1:p.Asp94= | |
| ENST00000424901.5:c.282C>T | ENSP00000399532.2:p.Asp94= | |
| ENST00000441941.6:c.282C>T | ENSP00000396968.2:p.Asp94= | |
| ENST00000452077.5:c.282C>T | ENSP00000404083.1:p.Asp94= | |
| ENST00000456441.5:c.282C>T | ENSP00000396532.1:p.Asp94= | |
| ENST00000486368.6:c.282C>T | ENSP00000463686.1:p.Asp94= | |
| ENST00000487537.2:n.107C>T | ||
| ENST00000491778.6:c.145C>T | ||
| ENST00000492463.6:c.106C>T | ENSP00000462776.1:p.Arg36Ter | |
| ENST00000537834.5:n.590C>T | ||
| ENST00000578123.5:c.282C>T | ENSP00000462022.1:p.Asp94= | |
| ENST00000579047.5:c.96C>T | ENSP00000471369.1:p.Asp32= | |
| ENST00000580747.5:c.282C>T | ENSP00000463806.2:p.Asp94= | |
| ENST00000583859.5:c.282C>T | ENSP00000462715.1:p.Asp94= | |
| ENST00000584288.5:c.106C>T | ENSP00000462469.1:p.Arg36Ter | |
| ENST00000596634.5:c.282C>T | ENSP00000470604.1:p.Asp94= | |
| ENST00000601166.5:c.15C>T | ENSP00000472371.1:p.Asp5= | |
| NM_001243027.2:c.96C>T | NP_001229956.1:p.Asp32= | |
| NM_001243028.2:c.96C>T | NP_001229957.1:p.Asp32= | |
| NM_001626.5:c.282C>T | NP_001617.1:p.Asp94= | |
| XM_011526614.1:c.282C>T | XP_011524916.1:p.Asp94= | |
| XM_011526615.1:c.282C>T | XP_011524917.1:p.Asp94= | |
| XM_011526616.1:c.282C>T | XP_011524918.1:p.Asp94= | |
| XM_011526617.1:c.282C>T | XP_011524919.1:p.Asp94= | |
| XM_011526618.1:c.282C>T | XP_011524920.1:p.Asp94= | |
| XM_011526619.1:c.282C>T | XP_011524921.1:p.Asp94= | |
| XM_011526620.1:c.282C>T | XP_011524922.1:p.Asp94= | |
| XM_011526621.1:c.282C>T | XP_011524923.1:p.Asp94= | |
| XM_011526622.1:c.282C>T | XP_011524924.1:p.Asp94= | |
| NM_001330511.1:c.282C>T | NP_001317440.1:p.Asp94= | |
| XM_011526622.2:c.282C>T | XP_011524924.1:p.Asp94= | |
| XM_017026470.2:c.282C>T | XP_016881959.1:p.Asp94= | |
| XM_024451416.1:c.282C>T | XP_024307184.1:p.Asp94= | |
| XM_024451417.1:c.282C>T | XP_024307185.1:p.Asp94= | |
| NM_001626.6:c.282C>T MANE Select | NP_001617.1:p.Asp94= | |
| NM_001243027.3:c.96C>T | NP_001229956.1:p.Asp32= | |
| NM_001243028.3:c.96C>T | NP_001229957.1:p.Asp32= |