Linked Data
ClinVar Variation Id:
102792
dbSNP Id:
rs62508592
ExAC:
12:103248897 C / A
gnomAD v2:
12-103248897-C-A
gnomAD v3:
12-102855119-C-A
gnomAD v4:
12-102855119-C-A
ERepo:
CA229702/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855119C>A , CM000674.2:g.102855119C>A | GRCh38 |
| NC_000012.11:g.103248897C>A , CM000674.1:g.103248897C>A | GRCh37 |
| NC_000012.10:g.101773027C>A | NCBI36 |
| NG_008690.1:g.67484G>T | |
| NG_008690.2:g.108292G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.706+17G>T MANE Select | ENSP00000448059.1:n.706+17G>T | |
| ENST00000307000.7:c.691+17G>T | ENSP00000303500.2:n.691+17G>T | |
| ENST00000549111.5:n.819G>T | ||
| ENST00000553106.5:c.706+17G>T | ENSP00000448059.1:n.706+17G>T | |
| NM_000277.1:c.706+17G>T | NP_000268.1:n.706+17G>T | |
| XM_011538422.1:c.706+17G>T | XP_011536724.1:n.706+17G>T | |
| NM_000277.2:c.706+17G>T | NP_000268.1:n.706+17G>T | |
| NM_001354304.1:c.706+17G>T | NP_001341233.1:n.706+17G>T | |
| XM_017019370.2:c.706+17G>T | XP_016874859.1:n.706+17G>T | |
| NM_000277.3:c.706+17G>T MANE Select | NP_000268.1:n.706+17G>T | |
| NM_001354304.2:c.706+17G>T | NP_001341233.1:n.706+17G>T |