Linked Data
dbSNP Id:
rs200054594
ExAC:
19:9237226 A / C
gnomAD v2:
19-9237226-A-C
gnomAD v4:
19-9126550-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126550A>C , CM000681.2:g.9126550A>C | GRCh38 |
| NC_000019.9:g.9237226A>C , CM000681.1:g.9237226A>C | GRCh37 |
| NC_000019.8:g.9098226A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.401T>G MANE Select | ENSP00000302867.2:p.Val134Gly | |
| NM_001001958.1:c.401T>G MANE Select | NP_001001958.1:p.Val134Gly |