Linked Data
dbSNP Id:
rs761051138
ExAC:
19:9237047 T / C
gnomAD v2:
19-9237047-T-C
gnomAD v4:
19-9126371-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126371T>C , CM000681.2:g.9126371T>C | GRCh38 |
| NC_000019.9:g.9237047T>C , CM000681.1:g.9237047T>C | GRCh37 |
| NC_000019.8:g.9098047T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.580A>G MANE Select | ENSP00000302867.2:p.Ile194Val | |
| NM_001001958.1:c.580A>G MANE Select | NP_001001958.1:p.Ile194Val |