Linked Data
dbSNP Id:
rs1357014022
gnomAD v2:
19-9237484-G-T
gnomAD v3:
19-9126808-G-T
gnomAD v4:
19-9126808-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126808G>T , CM000681.2:g.9126808G>T | GRCh38 |
| NC_000019.9:g.9237484G>T , CM000681.1:g.9237484G>T | GRCh37 |
| NC_000019.8:g.9098484G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.143C>A MANE Select | ENSP00000302867.2:p.Ala48Asp | |
| NM_001001958.1:c.143C>A MANE Select | NP_001001958.1:p.Ala48Asp |