Linked Data
ClinVar Variation Id:
93779
dbSNP Id:
rs1065765
ExAC:
9:33135238 G / A
gnomAD v2:
9-33135238-G-A
gnomAD v3:
9-33135240-G-A
gnomAD v4:
9-33135240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.33135240G>A , CM000671.2:g.33135240G>A | GRCh38 |
| NC_000009.11:g.33135238G>A , CM000671.1:g.33135238G>A | GRCh37 |
| NC_000009.10:g.33125238G>A | NCBI36 |
| NG_008919.1:g.37119C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379731.5:c.597C>T MANE Select | ENSP00000369055.4:p.His199= | |
| ENST00000379731.4:c.597C>T | ENSP00000369055.4:p.His199= | |
| ENST00000535206.5:c.597C>T | ENSP00000440341.1:p.His199= | |
| NM_001497.3:c.597C>T | NP_001488.2:p.His199= | |
| XM_005251440.3:c.597C>T | XP_005251497.1:p.His199= | |
| XM_005251440.5:c.597C>T | XP_005251497.1:p.His199= | |
| NM_001378495.1:c.558C>T | NP_001365424.1:p.His186= | |
| NM_001378496.1:c.597C>T | NP_001365425.1:p.His199= | |
| NM_001378497.1:c.597C>T | NP_001365426.1:p.His199= | |
| NM_001497.4:c.597C>T MANE Select | NP_001488.2:p.His199= |