Linked Data
ClinVar Variation Id:
460
ClinVar RCV Id:
RCV000000489
dbSNP Id:
rs121917872
PubMed:
PMID:12181641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98591089G>A , CM000665.2:g.98591089G>A | GRCh38 |
| NC_000003.11:g.98309933G>A , CM000665.1:g.98309933G>A | GRCh37 |
| NC_000003.10:g.99792623G>A | NCBI36 |
| NG_015994.1:g.7523C>T | |
| NG_015994.2:g.7523C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647941.2:c.623C>T MANE Select | ENSP00000497326.1:p.Ser208Phe | |
| ENST00000264193.2:c.623C>T | ENSP00000264193.2:p.Ser208Phe | |
| ENST00000513674.1:c.508-24C>T | ENSP00000424924.1:n.508-24C>T | |
| ENST00000515041.1:n.729C>T | ||
| NM_000097.5:c.623C>T | NP_000088.3:p.Ser208Phe | |
| XM_005247125.3:c.623C>T | XP_005247182.1:p.Ser208Phe | |
| XM_011512437.1:c.623C>T | XP_011510739.1:p.Ser208Phe | |
| NM_000097.7:c.623C>T MANE Select | NP_000088.3:p.Ser208Phe | |
| XM_005247125.4:c.623C>T | XP_005247182.1:p.Ser208Phe | |
| XR_001740025.2:n.794C>T | ||
| XR_001740026.1:n.799C>T | ||
| XR_001740027.1:n.803C>T | ||
| XR_001740028.1:n.803C>T |