Linked Data
ClinVar Variation Id:
140755
dbSNP Id:
rs201915239
gnomAD v2:
3-196214437-G-A
gnomAD v3:
3-196487566-G-A
gnomAD v4:
3-196487566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196487566G>A , CM000665.2:g.196487566G>A | GRCh38 |
| NC_000003.11:g.196214437G>A , CM000665.1:g.196214437G>A | GRCh37 |
| NC_000003.10:g.197698834G>A | NCBI36 |
| NG_023425.1:g.21203C>T , LRG_185:g.21203C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318037.3:c.391C>T MANE Select | ENSP00000320898.3:p.Arg131Ter | |
| ENST00000437070.1:c.314C>T | ENSP00000396712.1:p.Ala105Val | |
| NM_152617.3:c.391C>T , LRG_185t1:c.391C>T | NP_689830.2:p.Arg131Ter | |
| NM_152617.4:c.391C>T MANE Select | NP_689830.2:p.Arg131Ter |