Linked Data
ClinVar Variation Id:
1028660
ClinVar RCV Id:
RCV001329760
dbSNP Id:
rs2022599557
gnomAD v4:
19-7528165-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528165T>C , CM000681.2:g.7528165T>C | GRCh38 |
| NC_000019.9:g.7593051T>C , CM000681.1:g.7593051T>C | GRCh37 |
| NC_000019.8:g.7499051T>C | NCBI36 |
| NG_015806.1:g.10556T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.785T>C MANE Select | ENSP00000264079.5:p.Phe262Ser | |
| ENST00000264079.10:c.785T>C | ENSP00000264079.5:p.Phe262Ser | |
| ENST00000394321.9:n.1100T>C | ||
| NM_020533.2:c.785T>C | NP_065394.1:p.Phe262Ser | |
| NM_020533.3:c.785T>C MANE Select | NP_065394.1:p.Phe262Ser |