Linked Data
ClinVar Variation Id:
1238988
ClinVar RCV Id:
RCV001639919
dbSNP Id:
rs2298033
ExAC:
10:15649710 G / A
gnomAD v2:
10-15649710-G-A
gnomAD v3:
10-15607711-G-A
gnomAD v4:
10-15607711-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.15607711G>A , CM000672.2:g.15607711G>A | GRCh38 |
| NC_000010.10:g.15649710G>A , CM000672.1:g.15649710G>A | GRCh37 |
| NC_000010.9:g.15689716G>A | NCBI36 |
| NG_034116.1:g.117625C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378076.4:c.1730C>T MANE Select | ENSP00000367316.3:p.Ser577Phe | |
| ENST00000378076.3:c.1730C>T | ENSP00000367316.3:p.Ser577Phe | |
| NM_001291494.1:c.1685C>T | NP_001278423.1:p.Ser562Phe | |
| NM_003638.2:c.1730C>T | NP_003629.2:p.Ser577Phe | |
| XM_011519752.1:c.1730C>T | XP_011518054.1:p.Ser577Phe | |
| XM_011519752.2:c.1730C>T | XP_011518054.1:p.Ser577Phe | |
| NM_003638.3:c.1730C>T MANE Select | NP_003629.2:p.Ser577Phe | |
| NM_001291494.2:c.1685C>T | NP_001278423.1:p.Ser562Phe |