Linked Data
ClinVar Variation Id:
519
ClinVar RCV Id:
RCV000000548
dbSNP Id:
rs137852825
PubMed:
PMID:7493032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335544C>T , CM000667.2:g.128335544C>T | GRCh38 |
| NC_000005.9:g.127671236C>T , CM000667.1:g.127671236C>T | GRCh37 |
| NC_000005.8:g.127699135C>T | NCBI36 |
| NG_008750.1:g.207500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.542G>A | ||
| ENST00000703785.1:n.623G>A | ||
| ENST00000262464.9:c.3758G>A MANE Select | ENSP00000262464.4:p.Cys1253Tyr | |
| ENST00000262464.8:c.3758G>A | ENSP00000262464.4:p.Cys1253Tyr | |
| ENST00000507835.5:c.308G>A | ENSP00000426839.1:p.Cys103Tyr | |
| ENST00000508053.5:c.3758G>A | ENSP00000424571.1:p.Cys1253Tyr | |
| ENST00000508989.5:c.3659G>A | ENSP00000425596.1:p.Cys1220Tyr | |
| ENST00000619499.4:c.3755G>A | ENSP00000482132.1:p.Cys1252Tyr | |
| NM_001999.3:c.3758G>A | NP_001990.2:p.Cys1253Tyr | |
| XM_017009228.2:c.3605G>A | XP_016864717.1:p.Cys1202Tyr | |
| NM_001999.4:c.3758G>A MANE Select | NP_001990.2:p.Cys1253Tyr |