Linked Data
ClinVar Variation Id:
307292
ClinVar RCV Id:
RCV000263486
dbSNP Id:
rs886048994
gnomAD v3:
12-114354987-G-C
gnomAD v4:
12-114354987-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114354987G>C , CM000674.2:g.114354987G>C | GRCh38 |
| NC_000012.11:g.114792792G>C , CM000674.1:g.114792792G>C | GRCh37 |
| NC_000012.10:g.113277175G>C | NCBI36 |
| NG_007373.1:g.58456C>G , LRG_670:g.58456C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405440.7:c.*545C>G MANE Select | ENSP00000384152.3:n.*545C>G | |
| ENST00000310346.8:c.*545C>G | ENSP00000309913.4:n.*545C>G | |
| ENST00000349716.9:c.*545C>G | ENSP00000337723.5:n.*545C>G | |
| NM_000192.3:c.*545C>G , LRG_670t1:c.*545C>G | NP_000183.2:n.*545C>G | |
| NM_080717.2:c.*545C>G | NP_542448.1:n.*545C>G | |
| NM_181486.2:c.*545C>G | NP_852259.1:n.*545C>G | |
| XM_017019912.1:c.*545C>G | XP_016875401.1:n.*545C>G | |
| NM_080717.3:c.*545C>G | NP_542448.1:n.*545C>G | |
| NM_181486.4:c.*545C>G MANE Select | NP_852259.1:n.*545C>G | |
| NM_080717.4:c.*545C>G | NP_542448.1:n.*545C>G |