Linked Data
ClinVar Variation Id:
476808
ClinVar RCV Id:
RCV000559469
dbSNP Id:
rs905166588
gnomAD v4:
19-49829918-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49829918A>T , CM000681.2:g.49829918A>T | GRCh38 |
| NC_000019.9:g.50333175A>T , CM000681.1:g.50333175A>T | GRCh37 |
| NC_000019.8:g.55024987A>T | NCBI36 |
| NG_017091.1:g.16640A>T , LRG_368:g.16640A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.658A>T | ENSP00000470692.3:p.Met220Leu | |
| ENST00000312865.10:c.658A>T MANE Select | ENSP00000326767.5:p.Met220Leu | |
| ENST00000538643.5:c.181-593A>T | ENSP00000437496.1:n.181-593A>T | |
| ENST00000595185.5:c.658A>T | ENSP00000470027.1:p.Met220Leu | |
| ENST00000612791.4:c.656A>T | ENSP00000479851.1:p.His219Leu | |
| ENST00000612854.4:c.450+903A>T | ENSP00000482155.1:n.450+903A>T | |
| ENST00000617849.4:c.158-821A>T | ENSP00000484882.1:n.158-821A>T | |
| ENST00000618715.4:c.158-820A>T | ENSP00000480731.1:n.158-820A>T | |
| ENST00000620467.4:c.658A>T | ENSP00000482659.1:p.Met220Leu | |
| ENST00000622402.4:c.146-5909A>T | ENSP00000478074.1:n.146-5909A>T | |
| NM_030973.3:c.658A>T , LRG_368t1:c.658A>T | NP_112235.2:p.Met220Leu | |
| XM_011527353.1:c.658A>T | XP_011525655.1:p.Met220Leu | |
| NM_001378355.1:c.658A>T | NP_001365284.1:p.Met220Leu | |
| NM_030973.4:c.658A>T MANE Select | NP_112235.2:p.Met220Leu |