Linked Data
ClinVar Variation Id:
102795
dbSNP Id:
rs62508624
ExAC:
12:103246735 T / A
gnomAD v2:
12-103246735-T-A
gnomAD v3:
12-102852957-T-A
gnomAD v4:
12-102852957-T-A
ERepo:
CA180267/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852957T>A , CM000674.2:g.102852957T>A | GRCh38 |
| NC_000012.11:g.103246735T>A , CM000674.1:g.103246735T>A | GRCh37 |
| NC_000012.10:g.101770865T>A | NCBI36 |
| NG_008690.1:g.69646A>T | |
| NG_008690.2:g.110454A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.707-7A>T MANE Select | ENSP00000448059.1:n.707-7A>T | |
| ENST00000307000.7:c.692-7A>T | ENSP00000303500.2:n.692-7A>T | |
| ENST00000549247.6:n.459A>T | ||
| ENST00000553106.5:c.707-7A>T | ENSP00000448059.1:n.707-7A>T | |
| NM_000277.1:c.707-7A>T | NP_000268.1:n.707-7A>T | |
| XM_011538422.1:c.707-7A>T | XP_011536724.1:n.707-7A>T | |
| NM_000277.2:c.707-7A>T | NP_000268.1:n.707-7A>T | |
| NM_001354304.1:c.707-7A>T | NP_001341233.1:n.707-7A>T | |
| NM_000277.3:c.707-7A>T MANE Select | NP_000268.1:n.707-7A>T | |
| NM_001354304.2:c.707-7A>T | NP_001341233.1:n.707-7A>T |