Linked Data
ClinVar Variation Id:
323498
dbSNP Id:
rs2072081
gnomAD v2:
17-42327493-G-T
gnomAD v3:
17-44250125-G-T
gnomAD v4:
17-44250125-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44250125G>T , CM000679.2:g.44250125G>T | GRCh38 |
| NC_000017.10:g.42327493G>T , CM000679.1:g.42327493G>T | GRCh37 |
| NC_000017.9:g.39683019G>T | NCBI36 |
| NG_007498.1:g.23010C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262418.12:c.*333C>A MANE Select | ENSP00000262418.6:n.*333C>A | |
| ENST00000262418.10:c.*333C>A | ENSP00000262418.6:n.*333C>A | |
| ENST00000399246.3:c.*333C>A | ENSP00000382190.3:n.*333C>A | |
| NM_000342.3:c.*333C>A | NP_000333.1:n.*333C>A | |
| XM_005257593.3:c.*333C>A | XP_005257650.1:n.*333C>A | |
| XM_011525129.1:c.*333C>A | XP_011523431.1:n.*333C>A | |
| XM_005257593.5:c.*333C>A | XP_005257650.1:n.*333C>A | |
| XM_011525129.2:c.*333C>A | XP_011523431.1:n.*333C>A | |
| NM_000342.4:c.*333C>A MANE Select | NP_000333.1:n.*333C>A |