Linked Data
ClinVar Variation Id:
263821
ClinVar RCV Id:
RCV000248987
dbSNP Id:
rs886038935
PubMed:
PMID:19006240
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128332950C>A , CM000667.2:g.128332950C>A | GRCh38 |
| NC_000005.9:g.127668642C>A , CM000667.1:g.127668642C>A | GRCh37 |
| NC_000005.8:g.127696541C>A | NCBI36 |
| NG_008750.1:g.210094G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.968G>T | ||
| ENST00000703785.1:n.1049G>T | ||
| ENST00000262464.9:c.4184G>T MANE Select | ENSP00000262464.4:p.Cys1395Phe | |
| ENST00000262464.8:c.4184G>T | ENSP00000262464.4:p.Cys1395Phe | |
| ENST00000507835.5:c.734G>T | ENSP00000426839.1:p.Cys245Phe | |
| ENST00000508053.5:c.4184G>T | ENSP00000424571.1:p.Cys1395Phe | |
| ENST00000508989.5:c.4085G>T | ENSP00000425596.1:p.Cys1362Phe | |
| ENST00000619499.4:c.4181G>T | ENSP00000482132.1:p.Cys1394Phe | |
| NM_001999.3:c.4184G>T | NP_001990.2:p.Cys1395Phe | |
| XM_017009228.2:c.4031G>T | XP_016864717.1:p.Cys1344Phe | |
| NM_001999.4:c.4184G>T MANE Select | NP_001990.2:p.Cys1395Phe |