Linked Data
ClinVar Variation Id:
596
dbSNP Id:
rs62514952
ExAC:
12:103246621 C / A
gnomAD v2:
12-103246621-C-A
gnomAD v3:
12-102852843-C-A
gnomAD v4:
12-102852843-C-A
ERepo:
CA251532/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852843C>A , CM000674.2:g.102852843C>A | GRCh38 |
| NC_000012.11:g.103246621C>A , CM000674.1:g.103246621C>A | GRCh37 |
| NC_000012.10:g.101770751C>A | NCBI36 |
| NG_008690.1:g.69760G>T | |
| NG_008690.2:g.110568G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.814G>T MANE Select | ENSP00000448059.1:p.Gly272Ter | |
| ENST00000307000.7:c.799G>T | ENSP00000303500.2:p.Gly267Ter | |
| ENST00000549247.6:n.573G>T | ||
| ENST00000553106.5:c.814G>T | ENSP00000448059.1:p.Gly272Ter | |
| NM_000277.1:c.814G>T | NP_000268.1:p.Gly272Ter | |
| XM_011538422.1:c.814G>T | XP_011536724.1:p.Gly272Ter | |
| NM_000277.2:c.814G>T | NP_000268.1:p.Gly272Ter | |
| NM_001354304.1:c.814G>T | NP_001341233.1:p.Gly272Ter | |
| NM_000277.3:c.814G>T MANE Select | NP_000268.1:p.Gly272Ter | |
| NM_001354304.2:c.814G>T | NP_001341233.1:p.Gly272Ter |