Linked Data
ClinVar Variation Id:
139515
ClinVar RCV Id:
RCV000128416
dbSNP Id:
rs587777471
gnomAD v4:
14-75863694-G-A
PubMed:
PMID:24791901
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75863694G>A , CM000676.2:g.75863694G>A | GRCh38 |
| NC_000014.8:g.76330037G>A , CM000676.1:g.76330037G>A | GRCh37 |
| NC_000014.7:g.75399790G>A | NCBI36 |
| NG_016974.1:g.207487G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298832.14:c.3354G>A MANE Select | ENSP00000298832.9:p.Trp1118Ter | |
| ENST00000298832.13:c.3354G>A | ENSP00000298832.9:p.Trp1118Ter | |
| ENST00000554510.5:c.1881G>A | ENSP00000451946.1:p.Trp627Ter | |
| ENST00000556893.5:c.2007G>A | ENSP00000452524.1:p.Trp669Ter | |
| ENST00000557636.5:c.3399G>A | ENSP00000450713.1:p.Trp1133Ter | |
| NM_015072.4:c.3354G>A | NP_055887.3:p.Trp1118Ter | |
| NM_015072.5:c.3354G>A MANE Select | NP_055887.3:p.Trp1118Ter |