Linked Data
dbSNP Id:
rs1064395
gnomAD v2:
19-19361735-G-A
gnomAD v3:
19-19250926-G-A
gnomAD v4:
19-19250926-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19250926G>A , CM000681.2:g.19250926G>A | GRCh38 |
| NC_000019.9:g.19361735G>A , CM000681.1:g.19361735G>A | GRCh37 |
| NC_000019.8:g.19222735G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252575.11:c.*1015G>A MANE Select | ENSP00000252575.4:n.*1015G>A | |
| ENST00000252575.10:c.*1015G>A | ENSP00000252575.4:n.*1015G>A | |
| NM_004386.2:c.*1015G>A | NP_004377.2:n.*1015G>A | |
| XM_005259747.1:c.*1015G>A | XP_005259804.1:n.*1015G>A | |
| NM_004386.3:c.*1015G>A MANE Select | NP_004377.2:n.*1015G>A |