Linked Data
ClinVar Variation Id:
526
ClinVar RCV Id:
RCV000000555
dbSNP Id:
rs137852828
gnomAD v2:
5-127674672-C-A
gnomAD v4:
5-128338980-C-A
PubMed:
PMID:10797416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338980C>A , CM000667.2:g.128338980C>A | GRCh38 |
| NC_000005.9:g.127674672C>A , CM000667.1:g.127674672C>A | GRCh37 |
| NC_000005.8:g.127702571C>A | NCBI36 |
| NG_008750.1:g.204064G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.209G>T | ||
| ENST00000703785.1:n.290G>T | ||
| ENST00000262464.9:c.3425G>T MANE Select | ENSP00000262464.4:p.Cys1142Phe | |
| ENST00000262464.8:c.3425G>T | ENSP00000262464.4:p.Cys1142Phe | |
| ENST00000507835.5:c.-26G>T | ENSP00000426839.1:n.-26G>T | |
| ENST00000508053.5:c.3425G>T | ENSP00000424571.1:p.Cys1142Phe | |
| ENST00000508989.5:c.3326G>T | ENSP00000425596.1:p.Cys1109Phe | |
| ENST00000619499.4:c.3422G>T | ENSP00000482132.1:p.Cys1141Phe | |
| NM_001999.3:c.3425G>T | NP_001990.2:p.Cys1142Phe | |
| XM_017009228.2:c.3272G>T | XP_016864717.1:p.Cys1091Phe | |
| NM_001999.4:c.3425G>T MANE Select | NP_001990.2:p.Cys1142Phe |