Linked Data
dbSNP Id:
rs1047293885
gnomAD v2:
19-33791417-G-T
gnomAD v3:
19-33300511-G-T
gnomAD v4:
19-33300511-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33300511G>T , CM000681.2:g.33300511G>T | GRCh38 |
| NC_000019.9:g.33791417G>T , CM000681.1:g.33791417G>T | GRCh37 |
| NC_000019.8:g.38483257G>T | NCBI36 |
| NG_012022.1:g.7014C>A , LRG_456:g.7014C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.*827C>A MANE Select | ENSP00000427514.1:n.*827C>A | |
| ENST00000498907.2:c.*827C>A | ENSP00000427514.1:n.*827C>A | |
| NM_001285829.1:c.*827C>A | NP_001272758.1:n.*827C>A | |
| NM_001287424.1:c.*827C>A | NP_001274353.1:n.*827C>A | |
| NM_001287435.1:c.*827C>A | NP_001274364.1:n.*827C>A | |
| NM_004364.4:c.*827C>A | NP_004355.2:n.*827C>A | |
| NM_001287424.2:c.*827C>A | NP_001274353.1:n.*827C>A | |
| NM_004364.5:c.*827C>A MANE Select | NP_004355.2:n.*827C>A | |
| NM_001285829.2:c.*827C>A | NP_001272758.1:n.*827C>A | |
| NM_001287435.2:c.*827C>A | NP_001274364.1:n.*827C>A |