Linked Data
ClinVar Variation Id:
180594
dbSNP Id:
rs797044527
gnomAD v4:
3-138946073-G-A
PubMed:
PMID:20301614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946073G>A , CM000665.2:g.138946073G>A | GRCh38 |
| NC_000003.11:g.138664915G>A , CM000665.1:g.138664915G>A | GRCh37 |
| NC_000003.10:g.140147605G>A | NCBI36 |
| NG_012454.1:g.6068C>T | |
| NG_029796.1:g.3840G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.650C>T MANE Select | ENSP00000497217.1:p.Ser217Phe | |
| ENST00000330315.3:c.650C>T | ENSP00000333188.3:p.Ser217Phe | |
| NM_023067.3:c.650C>T | NP_075555.1:p.Ser217Phe | |
| NM_023067.4:c.650C>T MANE Select | NP_075555.1:p.Ser217Phe |