Linked Data
ClinVar Variation Id:
31624
ClinVar RCV Id:
RCV000024321
dbSNP Id:
rs387907172
gnomAD v4:
16-74719067-A-G
PubMed:
PMID:22146942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74719067A>G , CM000678.2:g.74719067A>G | GRCh38 |
| NC_000016.9:g.74752965A>G , CM000678.1:g.74752965A>G | GRCh37 |
| NC_000016.8:g.73310466A>G | NCBI36 |
| NG_017070.1:g.60765T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.707T>C MANE Select | ENSP00000219368.3:p.Phe236Ser | |
| ENST00000219368.7:c.707T>C | ENSP00000219368.3:p.Phe236Ser | |
| ENST00000567683.5:c.457T>C | ENSP00000455126.1:p.Ser153Pro | |
| ENST00000569949.1:c.509T>C | ENSP00000464576.1:p.Phe170Ser | |
| NM_024306.4:c.707T>C | NP_077282.3:p.Phe236Ser | |
| XM_011523317.1:c.707T>C | XP_011521619.1:p.Phe236Ser | |
| XM_011523318.1:c.707T>C | XP_011521620.1:p.Phe236Ser | |
| XM_011523319.1:c.467T>C | XP_011521621.1:p.Phe156Ser | |
| XM_011523317.3:c.707T>C | XP_011521619.1:p.Phe236Ser | |
| XM_011523319.2:c.467T>C | XP_011521621.1:p.Phe156Ser | |
| NM_024306.5:c.707T>C MANE Select | NP_077282.3:p.Phe236Ser |