Linked Data
ClinVar Variation Id:
1608647
ClinVar RCV Id:
RCV002147589
dbSNP Id:
rs372370104
ExAC:
19:7589896 G / T
gnomAD v2:
19-7589896-G-T
gnomAD v4:
19-7525010-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525010G>T , CM000681.2:g.7525010G>T | GRCh38 |
| NC_000019.9:g.7589896G>T , CM000681.1:g.7589896G>T | GRCh37 |
| NC_000019.8:g.7495896G>T | NCBI36 |
| NG_015806.1:g.7401G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.81G>T MANE Select | ENSP00000264079.5:p.Gly27= | |
| ENST00000264079.10:c.81G>T | ENSP00000264079.5:p.Gly27= | |
| ENST00000394321.9:n.161G>T | ||
| ENST00000596390.1:n.197G>T | ||
| ENST00000601003.1:c.81G>T | ENSP00000469074.1:p.Gly27= | |
| NM_020533.2:c.81G>T | NP_065394.1:p.Gly27= | |
| NM_020533.3:c.81G>T MANE Select | NP_065394.1:p.Gly27= |