Linked Data
ClinVar Variation Id:
307297
ClinVar RCV Id:
RCV000379308
dbSNP Id:
rs886048995
gnomAD v2:
12-114793060-G-A
gnomAD v3:
12-114355255-G-A
gnomAD v4:
12-114355255-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114355255G>A , CM000674.2:g.114355255G>A | GRCh38 |
| NC_000012.11:g.114793060G>A , CM000674.1:g.114793060G>A | GRCh37 |
| NC_000012.10:g.113277443G>A | NCBI36 |
| NG_007373.1:g.58188C>T , LRG_670:g.58188C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405440.7:c.*277C>T MANE Select | ENSP00000384152.3:n.*277C>T | |
| ENST00000310346.8:c.*277C>T | ENSP00000309913.4:n.*277C>T | |
| ENST00000349716.9:c.*277C>T | ENSP00000337723.5:n.*277C>T | |
| NM_000192.3:c.*277C>T , LRG_670t1:c.*277C>T | NP_000183.2:n.*277C>T | |
| NM_080717.2:c.*277C>T | NP_542448.1:n.*277C>T | |
| NM_181486.2:c.*277C>T | NP_852259.1:n.*277C>T | |
| XM_017019912.1:c.*277C>T | XP_016875401.1:n.*277C>T | |
| NM_080717.3:c.*277C>T | NP_542448.1:n.*277C>T | |
| NM_181486.4:c.*277C>T MANE Select | NP_852259.1:n.*277C>T | |
| NM_080717.4:c.*277C>T | NP_542448.1:n.*277C>T |