Linked Data
dbSNP Id:
rs3177928
gnomAD v2:
6-32412435-G-A
gnomAD v3:
6-32444658-G-A
gnomAD v4:
6-32444658-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32444658G>A , CM000668.2:g.32444658G>A | GRCh38 |
| NC_000006.11:g.32412435G>A , CM000668.1:g.32412435G>A | GRCh37 |
| NC_000006.10:g.32520413G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395388.7:c.*18G>A MANE Select | ENSP00000378786.2:n.*18G>A | |
| ENST00000374982.5:c.*18G>A | ENSP00000364121.5:n.*18G>A | |
| ENST00000395388.6:c.*18G>A | ENSP00000378786.2:n.*18G>A | |
| NM_019111.4:c.*18G>A | NP_061984.2:n.*18G>A | |
| NM_019111.5:c.*18G>A MANE Select | NP_061984.2:n.*18G>A |