Linked Data
ClinVar Variation Id:
504885
ClinVar RCV Id:
RCV000600509
dbSNP Id:
rs1553965519
gnomAD v4:
4-154606812-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154606812C>T , CM000666.2:g.154606812C>T | GRCh38 |
| NC_000004.11:g.155527964C>T , CM000666.1:g.155527964C>T | GRCh37 |
| NC_000004.10:g.155747414C>T | NCBI36 |
| NG_008834.1:g.10939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336098.8:c.1022G>A MANE Select | ENSP00000336829.3:p.Trp341Ter | |
| ENST00000336098.7:c.1022G>A | ENSP00000336829.3:p.Trp341Ter | |
| ENST00000404648.7:c.1022G>A | ENSP00000384860.3:p.Trp341Ter | |
| ENST00000405164.5:c.1046G>A | ENSP00000384101.1:p.Trp349Ter | |
| ENST00000407946.5:c.1046G>A | ENSP00000384552.1:p.Trp349Ter | |
| ENST00000465913.1:n.570G>A | ||
| ENST00000492082.5:n.1564G>A | ||
| NM_000509.4:c.1022G>A | NP_000500.2:p.Trp341Ter | |
| NM_000509.5:c.1022G>A | NP_000500.2:p.Trp341Ter | |
| NM_021870.2:c.1022G>A | NP_068656.2:p.Trp341Ter | |
| NM_021870.3:c.1022G>A MANE Select | NP_068656.2:p.Trp341Ter | |
| NM_000509.6:c.1022G>A | NP_000500.2:p.Trp341Ter |