Linked Data
ClinVar Variation Id:
1540691
ClinVar RCV Id:
RCV002177194
dbSNP Id:
rs768172824
gnomAD v4:
19-7525049-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525049C>T , CM000681.2:g.7525049C>T | GRCh38 |
| NC_000019.9:g.7589935C>T , CM000681.1:g.7589935C>T | GRCh37 |
| NC_000019.8:g.7495935C>T | NCBI36 |
| NG_015806.1:g.7440C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.120C>T MANE Select | ENSP00000264079.5:p.Asp40= | |
| ENST00000264079.10:c.120C>T | ENSP00000264079.5:p.Asp40= | |
| ENST00000394321.9:n.200C>T | ||
| ENST00000596390.1:n.236C>T | ||
| ENST00000601003.1:c.120C>T | ENSP00000469074.1:p.Asp40= | |
| NM_020533.2:c.120C>T | NP_065394.1:p.Asp40= | |
| NM_020533.3:c.120C>T MANE Select | NP_065394.1:p.Asp40= |