Linked Data
ClinVar Variation Id:
307291
ClinVar RCV Id:
RCV000367556
dbSNP Id:
rs78058633
gnomAD v2:
12-114792774-C-T
gnomAD v3:
12-114354969-C-T
gnomAD v4:
12-114354969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114354969C>T , CM000674.2:g.114354969C>T | GRCh38 |
| NC_000012.11:g.114792774C>T , CM000674.1:g.114792774C>T | GRCh37 |
| NC_000012.10:g.113277157C>T | NCBI36 |
| NG_007373.1:g.58474G>A , LRG_670:g.58474G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405440.7:c.*563G>A MANE Select | ENSP00000384152.3:n.*563G>A | |
| ENST00000310346.8:c.*563G>A | ENSP00000309913.4:n.*563G>A | |
| ENST00000349716.9:c.*563G>A | ENSP00000337723.5:n.*563G>A | |
| NM_000192.3:c.*563G>A , LRG_670t1:c.*563G>A | NP_000183.2:n.*563G>A | |
| NM_080717.2:c.*563G>A | NP_542448.1:n.*563G>A | |
| NM_181486.2:c.*563G>A | NP_852259.1:n.*563G>A | |
| XM_017019912.1:c.*563G>A | XP_016875401.1:n.*563G>A | |
| NM_080717.3:c.*563G>A | NP_542448.1:n.*563G>A | |
| NM_181486.4:c.*563G>A MANE Select | NP_852259.1:n.*563G>A | |
| NM_080717.4:c.*563G>A | NP_542448.1:n.*563G>A |