Linked Data
dbSNP Id:
rs1034552830
gnomAD v2:
16-82182008-G-T
gnomAD v3:
16-82148403-G-T
gnomAD v4:
16-82148403-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82148403G>T , CM000678.2:g.82148403G>T | GRCh38 |
| NC_000016.9:g.82182008G>T , CM000678.1:g.82182008G>T | GRCh37 |
| NC_000016.8:g.80739509G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258169.9:c.*328C>A MANE Select | ENSP00000258169.4:n.*328C>A | |
| ENST00000258169.8:c.*328C>A | ENSP00000258169.4:n.*328C>A | |
| ENST00000563100.5:c.*72+256C>A | ENSP00000454996.1:n.*72+256C>A | |
| NM_005792.2:c.*328C>A MANE Select | NP_005783.2:n.*328C>A | |
| XM_011522808.1:c.*328C>A | XP_011521110.1:n.*328C>A | |
| XM_011522808.3:c.*328C>A | XP_011521110.1:n.*328C>A |