Linked Data
dbSNP Id:
rs1164509912
gnomAD v3:
19-33300465-G-T
gnomAD v4:
19-33300465-G-T
MyVariant Identifiers:
chr19:g.33791371G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33300465G>T , CM000681.2:g.33300465G>T | GRCh38 |
| NC_000019.9:g.33791371G>T , CM000681.1:g.33791371G>T | GRCh37 |
| NC_000019.8:g.38483211G>T | NCBI36 |
| NG_012022.1:g.7060C>A , LRG_456:g.7060C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.*873C>A MANE Select | ENSP00000427514.1:n.*873C>A | |
| ENST00000498907.2:c.*873C>A | ENSP00000427514.1:n.*873C>A | |
| NM_001285829.1:c.*873C>A | NP_001272758.1:n.*873C>A | |
| NM_001287424.1:c.*873C>A | NP_001274353.1:n.*873C>A | |
| NM_001287435.1:c.*873C>A | NP_001274364.1:n.*873C>A | |
| NM_004364.4:c.*873C>A | NP_004355.2:n.*873C>A | |
| NM_001287424.2:c.*873C>A | NP_001274353.1:n.*873C>A | |
| NM_004364.5:c.*873C>A MANE Select | NP_004355.2:n.*873C>A | |
| NM_001285829.2:c.*873C>A | NP_001272758.1:n.*873C>A | |
| NM_001287435.2:c.*873C>A | NP_001274364.1:n.*873C>A |