Linked Data
dbSNP Id:
rs753583634
ExAC:
19:9237335 G / A
gnomAD v2:
19-9237335-G-A
gnomAD v4:
19-9126659-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126659G>A , CM000681.2:g.9126659G>A | GRCh38 |
| NC_000019.9:g.9237335G>A , CM000681.1:g.9237335G>A | GRCh37 |
| NC_000019.8:g.9098335G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.292C>T MANE Select | ENSP00000302867.2:p.Leu98Phe | |
| NM_001001958.1:c.292C>T MANE Select | NP_001001958.1:p.Leu98Phe |