Linked Data
dbSNP Id:
rs528518239
gnomAD v2:
8-41119558-G-A
gnomAD v3:
8-41262039-G-A
gnomAD v4:
8-41262039-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41262039G>A , CM000670.2:g.41262039G>A | GRCh38 |
| NC_000008.10:g.41119558G>A , CM000670.1:g.41119558G>A | GRCh37 |
| NC_000008.9:g.41238715G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220772.8:c.*3128C>T MANE Select | ENSP00000220772.3:n.*3128C>T | |
| ENST00000220772.7:c.*3128C>T | ENSP00000220772.3:n.*3128C>T | |
| ENST00000379845.3:c.*3128C>T | ENSP00000369174.3:n.*3128C>T | |
| NM_003012.4:c.*3128C>T | NP_003003.3:n.*3128C>T | |
| NM_003012.5:c.*3128C>T MANE Select | NP_003003.3:n.*3128C>T |