Linked Data
ClinVar Variation Id:
337314
dbSNP Id:
rs35509268
ExAC:
2:85895337 G / A
gnomAD v2:
2-85895337-G-A
gnomAD v3:
2-85668214-G-A
gnomAD v4:
2-85668214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85668214G>A , CM000664.2:g.85668214G>A | GRCh38 |
| NC_000002.11:g.85895337G>A , CM000664.1:g.85895337G>A | GRCh37 |
| NC_000002.10:g.85748848G>A | NCBI36 |
| NG_016967.1:g.5528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.-31C>T | ENSP00000386346.2:n.-31C>T | |
| ENST00000393822.7:c.-31C>T | ENSP00000377409.4:n.-31C>T | |
| ENST00000409383.5:c.6C>T | ENSP00000386346.1:p.His2= | |
| NM_000542.3:c.6C>T | NP_000533.3:p.His2= | |
| NM_198843.2:c.6C>T | NP_942140.2:p.His2= | |
| XM_005264487.2:c.6C>T | XP_005264544.1:p.His2= | |
| NM_198843.3:c.-31C>T | NP_942140.3:n.-31C>T |