Linked Data
ClinVar Variation Id:
222033
ClinVar RCV Id:
RCV000207494
dbSNP Id:
rs869025337
gnomAD v4:
6-105124593-G-A
PubMed:
PMID:26642364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.105124593G>A , CM000668.2:g.105124593G>A | GRCh38 |
| NC_000006.11:g.105572468G>A , CM000668.1:g.105572468G>A | GRCh37 |
| NC_000006.10:g.105679161G>A | NCBI36 |
| NG_046732.1:g.17582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314641.10:c.602C>T MANE Select | ENSP00000313172.5:p.Ser201Phe | |
| ENST00000314641.9:c.602C>T | ENSP00000313172.5:p.Ser201Phe | |
| ENST00000336775.9:c.602C>T | ENSP00000337259.5:p.Ser201Phe | |
| ENST00000446408.2:c.602C>T | ENSP00000397310.2:p.Ser201Phe | |
| NM_001199563.1:c.602C>T | NP_001186492.1:p.Ser201Phe | |
| NM_007073.4:c.602C>T | NP_009004.2:p.Ser201Phe | |
| NM_147147.3:c.602C>T | NP_671488.1:p.Ser201Phe | |
| XM_011535398.1:c.602C>T | XP_011533700.1:p.Ser201Phe | |
| XM_011535398.2:c.602C>T | XP_011533700.1:p.Ser201Phe | |
| NM_001199563.2:c.602C>T MANE Select | NP_001186492.1:p.Ser201Phe | |
| NM_147147.4:c.602C>T | NP_671488.1:p.Ser201Phe |