Linked Data
ClinVar Variation Id:
2014164
ClinVar RCV Id:
RCV002829900
dbSNP Id:
rs1046396546
gnomAD v2:
7-19156681-G-A
gnomAD v3:
7-19117058-G-A
gnomAD v4:
7-19117058-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117058G>A , CM000669.2:g.19117058G>A | GRCh38 |
| NC_000007.13:g.19156681G>A , CM000669.1:g.19156681G>A | GRCh37 |
| NC_000007.12:g.19123206G>A | NCBI36 |
| NG_008114.1:g.5615C>T | |
| NG_008114.2:g.5615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.264C>T MANE Select | ENSP00000242261.5:p.Gly88= | |
| ENST00000242261.5:c.264C>T | ENSP00000242261.5:p.Gly88= | |
| ENST00000354571.5:c.61C>T | ||
| NM_000474.3:c.264C>T | NP_000465.1:p.Gly88= | |
| XM_011515496.1:c.264C>T | XP_011513798.1:p.Gly88= | |
| NR_149001.1:n.615C>T | ||
| NM_000474.4:c.264C>T MANE Select | NP_000465.1:p.Gly88= | |
| NR_149001.2:n.579C>T |