Linked Data
dbSNP Id:
rs756102625
ExAC:
19:45910367 C / T
gnomAD v2:
19-45910367-C-T
gnomAD v4:
19-45407109-C-T
COSMIC:
COSM1304775
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45407109C>T , CM000681.2:g.45407109C>T | GRCh38 |
| NC_000019.9:g.45910367C>T , CM000681.1:g.45910367C>T | GRCh37 |
| NC_000019.8:g.50602207C>T | NCBI36 |
| NG_015839.2:g.76720G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309424.8:c.38C>T MANE Select | ENSP00000310966.3:p.Ser13Phe | |
| ENST00000309424.7:c.38C>T | ENSP00000310966.3:p.Ser13Phe | |
| ENST00000589804.1:c.44C>T | ENSP00000465099.1:p.Ser15Phe | |
| ENST00000590794.1:c.20+391C>T | ||
| ENST00000592852.1:c.-497C>T | ENSP00000467771.1:n.-497C>T | |
| NM_001297590.1:c.44C>T | NP_001284519.1:p.Ser15Phe | |
| NM_012099.1:c.38C>T | NP_036231.1:p.Ser13Phe | |
| NM_001297590.2:c.44C>T | NP_001284519.1:p.Ser15Phe | |
| NM_012099.2:c.38C>T | NP_036231.1:p.Ser13Phe | |
| NM_001297590.3:c.44C>T | NP_001284519.1:p.Ser15Phe | |
| NM_012099.3:c.38C>T MANE Select | NP_036231.1:p.Ser13Phe |