Linked Data
dbSNP Id:
rs1414919036
gnomAD v2:
19-9237384-C-T
gnomAD v3:
19-9126708-C-T
gnomAD v4:
19-9126708-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126708C>T , CM000681.2:g.9126708C>T | GRCh38 |
| NC_000019.9:g.9237384C>T , CM000681.1:g.9237384C>T | GRCh37 |
| NC_000019.8:g.9098384C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.243G>A MANE Select | ENSP00000302867.2:p.Met81Ile | |
| NM_001001958.1:c.243G>A MANE Select | NP_001001958.1:p.Met81Ile |