Linked Data
ClinVar Variation Id:
892108
ClinVar RCV Id:
RCV001127906
dbSNP Id:
rs1210611177
gnomAD v2:
19-15298107-G-A
gnomAD v4:
19-15187296-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15187296G>A , CM000681.2:g.15187296G>A | GRCh38 |
| NC_000019.9:g.15298107G>A , CM000681.1:g.15298107G>A | GRCh37 |
| NC_000019.8:g.15159107G>A | NCBI36 |
| NG_009819.1:g.18686C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.1649C>T MANE Select | ENSP00000263388.1:p.Ser550Phe | |
| ENST00000263388.6:c.1649C>T | ENSP00000263388.1:p.Ser550Phe | |
| ENST00000601011.1:c.1646C>T | ENSP00000473138.1:p.Ser549Phe | |
| NM_000435.2:c.1649C>T | NP_000426.2:p.Ser550Phe | |
| XM_005259924.3:c.1649C>T | XP_005259981.1:p.Ser550Phe | |
| XM_005259924.4:c.1649C>T | XP_005259981.1:p.Ser550Phe | |
| NM_000435.3:c.1649C>T MANE Select | NP_000426.2:p.Ser550Phe |