Linked Data
ClinVar Variation Id:
323497
dbSNP Id:
rs13306777
gnomAD v2:
17-42327491-C-T
gnomAD v3:
17-44250123-C-T
gnomAD v4:
17-44250123-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44250123C>T , CM000679.2:g.44250123C>T | GRCh38 |
| NC_000017.10:g.42327491C>T , CM000679.1:g.42327491C>T | GRCh37 |
| NC_000017.9:g.39683017C>T | NCBI36 |
| NG_007498.1:g.23012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.*335G>A MANE Select | ENSP00000262418.6:n.*335G>A | |
| ENST00000262418.10:c.*335G>A | ENSP00000262418.6:n.*335G>A | |
| ENST00000399246.3:c.*335G>A | ENSP00000382190.3:n.*335G>A | |
| NM_000342.3:c.*335G>A | NP_000333.1:n.*335G>A | |
| XM_005257593.3:c.*335G>A | XP_005257650.1:n.*335G>A | |
| XM_011525129.1:c.*335G>A | XP_011523431.1:n.*335G>A | |
| XM_005257593.5:c.*335G>A | XP_005257650.1:n.*335G>A | |
| XM_011525129.2:c.*335G>A | XP_011523431.1:n.*335G>A | |
| NM_000342.4:c.*335G>A MANE Select | NP_000333.1:n.*335G>A |