Linked Data
ClinVar Variation Id:
644765
ClinVar RCV Id:
RCV001796230
dbSNP Id:
rs1599291445
gnomAD v4:
19-853293-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853293G>T , CM000681.2:g.853293G>T | GRCh38 |
| NC_000019.9:g.853293G>T , CM000681.1:g.853293G>T | GRCh37 |
| NC_000019.8:g.804293G>T | NCBI36 |
| NG_009627.1:g.6003G>T , LRG_57:g.6003G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.256G>T MANE Select | ENSP00000263621.1:p.Ala86Ser | |
| ENST00000263621.1:c.256G>T | ENSP00000263621.1:p.Ala86Ser | |
| ENST00000590230.5:c.256G>T | ENSP00000466090.1:p.Ala86Ser | |
| NM_001972.2:c.256G>T , LRG_57t1:c.256G>T | NP_001963.1:p.Ala86Ser | |
| XM_011527775.1:c.256G>T | XP_011526077.1:p.Ala86Ser | |
| XM_011527776.1:c.256G>T | XP_011526078.1:p.Ala86Ser | |
| NM_001972.3:c.256G>T | NP_001963.1:p.Ala86Ser | |
| NM_001972.4:c.256G>T MANE Select | NP_001963.1:p.Ala86Ser |