Linked Data
dbSNP Id:
rs775040894
ExAC:
19:7589855 C / T
gnomAD v2:
19-7589855-C-T
gnomAD v3:
19-7524969-C-T
gnomAD v4:
19-7524969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7524969C>T , CM000681.2:g.7524969C>T | GRCh38 |
| NC_000019.9:g.7589855C>T , CM000681.1:g.7589855C>T | GRCh37 |
| NC_000019.8:g.7495855C>T | NCBI36 |
| NG_015806.1:g.7360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.40C>T MANE Select | ENSP00000264079.5:p.Arg14Trp | |
| ENST00000264079.10:c.40C>T | ENSP00000264079.5:p.Arg14Trp | |
| ENST00000394321.9:n.120C>T | ||
| ENST00000596390.1:n.156C>T | ||
| ENST00000601003.1:c.40C>T | ENSP00000469074.1:p.Arg14Trp | |
| NM_020533.2:c.40C>T | NP_065394.1:p.Arg14Trp | |
| XR_936293.2:n.12G>A | ||
| XR_936294.2:n.12G>A | ||
| NM_020533.3:c.40C>T MANE Select | NP_065394.1:p.Arg14Trp |