Linked Data
ClinVar Variation Id:
8164
ClinVar RCV Id:
RCV000008642
dbSNP Id:
rs121909300
PubMed:
PMID:9671268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41749579C>A , CM000667.2:g.41749579C>A | GRCh38 |
| NC_000005.9:g.41749681C>A , CM000667.1:g.41749681C>A | GRCh37 |
| NC_000005.8:g.41785438C>A | NCBI36 |
| NG_011823.1:g.126111G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000196371.10:c.1367G>T MANE Select | ENSP00000196371.5:p.Cys456Phe | |
| ENST00000196371.9:c.1367G>T | ENSP00000196371.5:p.Cys456Phe | |
| ENST00000508557.5:n.252G>T | ||
| ENST00000509987.1:c.809G>T | ENSP00000425348.1:p.Cys270Phe | |
| ENST00000510634.5:c.176G>T | ENSP00000423144.1:p.Cys59Phe | |
| ENST00000512084.5:c.176G>T | ENSP00000421143.1:p.Cys59Phe | |
| ENST00000513081.5:n.298G>T | ||
| NM_000436.3:c.1367G>T | NP_000427.1:p.Cys456Phe | |
| XR_427658.2:n.1470G>T | ||
| NM_001364299.1:c.1388G>T | NP_001351228.1:p.Cys463Phe | |
| NM_001364300.1:c.1388G>T | NP_001351229.1:p.Cys463Phe | |
| NM_001364301.1:c.1361G>T | NP_001351230.1:p.Cys454Phe | |
| NM_001364302.1:c.1277G>T | NP_001351231.1:p.Cys426Phe | |
| NM_001364303.1:c.809G>T | NP_001351232.1:p.Cys270Phe | |
| NR_157114.1:n.1361G>T | ||
| NM_000436.4:c.1367G>T MANE Select | NP_000427.1:p.Cys456Phe | |
| NM_001364299.2:c.1388G>T | NP_001351228.1:p.Cys463Phe | |
| NM_001364300.2:c.1388G>T | NP_001351229.1:p.Cys463Phe | |
| NM_001364301.2:c.1361G>T | NP_001351230.1:p.Cys454Phe | |
| NM_001364302.2:c.1277G>T | NP_001351231.1:p.Cys426Phe | |
| NR_157114.2:n.1361G>T | ||
| NM_001364303.2:c.809G>T | NP_001351232.1:p.Cys270Phe |