Linked Data
dbSNP Id:
rs12691
gnomAD v2:
19-33791127-G-A
gnomAD v3:
19-33300221-G-A
gnomAD v4:
19-33300221-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33300221G>A , CM000681.2:g.33300221G>A | GRCh38 |
| NC_000019.9:g.33791127G>A , CM000681.1:g.33791127G>A | GRCh37 |
| NC_000019.8:g.38482967G>A | NCBI36 |
| NG_012022.1:g.7304C>T , LRG_456:g.7304C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000498907.3:c.*1117C>T MANE Select | ENSP00000427514.1:n.*1117C>T | |
| ENST00000498907.2:c.*1117C>T | ENSP00000427514.1:n.*1117C>T | |
| NM_001285829.1:c.*1117C>T | NP_001272758.1:n.*1117C>T | |
| NM_001287424.1:c.*1117C>T | NP_001274353.1:n.*1117C>T | |
| NM_001287435.1:c.*1117C>T | NP_001274364.1:n.*1117C>T | |
| NM_004364.4:c.*1117C>T | NP_004355.2:n.*1117C>T | |
| NM_001287424.2:c.*1117C>T | NP_001274353.1:n.*1117C>T | |
| NM_004364.5:c.*1117C>T MANE Select | NP_004355.2:n.*1117C>T | |
| NM_001285829.2:c.*1117C>T | NP_001272758.1:n.*1117C>T | |
| NM_001287435.2:c.*1117C>T | NP_001274364.1:n.*1117C>T |