Linked Data
ClinVar Variation Id:
375326
dbSNP Id:
rs1057519063
gnomAD v4:
15-91013842-G-A
COSMIC:
COSM4429397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91013842G>A , CM000677.2:g.91013842G>A | GRCh38 |
| NC_000015.9:g.91557072G>A , CM000677.1:g.91557072G>A | GRCh37 |
| NC_000015.8:g.89358076G>A | NCBI36 |
| NG_012162.1:g.13762C>T , LRG_884:g.13762C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333371.8:c.319C>T MANE Select | ENSP00000327650.4:p.Arg107Ter | |
| ENST00000643536.1:c.319C>T | ENSP00000494429.1:p.Arg107Ter | |
| ENST00000647331.1:c.319C>T | ENSP00000493953.1:p.Arg107Ter | |
| ENST00000333371.7:c.319C>T | ENSP00000327650.3:p.Arg107Ter | |
| ENST00000535906.1:c.238C>T | ENSP00000444053.1:p.Arg80Ter | |
| ENST00000554264.5:n.242C>T | ||
| ENST00000556096.6:n.713C>T | ||
| ENST00000557358.1:n.523C>T | ||
| ENST00000574755.5:c.*14C>T | ENSP00000460413.1:n.*14C>T | |
| NM_001289148.1:c.238C>T | NP_001276077.1:p.Arg80Ter | |
| NM_001289149.1:c.46C>T | NP_001276078.1:p.Arg16Ter | |
| NM_018668.4:c.319C>T , LRG_884t1:c.319C>T | NP_061138.3:p.Arg107Ter | |
| XM_005254884.2:c.319C>T | XP_005254941.1:p.Arg107Ter | |
| XM_005254887.1:c.46C>T | XP_005254944.1:p.Arg16Ter | |
| XM_005254888.2:c.319C>T | XP_005254945.1:p.Arg107Ter | |
| XM_011521448.1:c.46C>T | XP_011519750.1:p.Arg16Ter | |
| XM_017022075.2:c.-43C>T | XP_016877564.1:n.-43C>T | |
| XM_017022076.1:c.-43C>T | XP_016877565.1:n.-43C>T | |
| XR_001751213.2:n.655C>T | ||
| NM_018668.5:c.319C>T MANE Select | NP_061138.3:p.Arg107Ter |