Linked Data
ClinVar Variation Id:
1661496
ClinVar RCV Id:
RCV002193102
dbSNP Id:
rs370258593
ExAC:
12:103238094 G / A
gnomAD v2:
12-103238094-G-A
gnomAD v3:
12-102844316-G-A
gnomAD v4:
12-102844316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844316G>A , CM000674.2:g.102844316G>A | GRCh38 |
| NC_000012.11:g.103238094G>A , CM000674.1:g.103238094G>A | GRCh37 |
| NC_000012.10:g.101762224G>A | NCBI36 |
| NG_008690.1:g.78287C>T | |
| NG_008690.2:g.119095C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1065+20C>T MANE Select | ENSP00000448059.1:n.1065+20C>T | |
| ENST00000307000.7:c.1050+20C>T | ENSP00000303500.2:n.1050+20C>T | |
| ENST00000549247.6:n.824+20C>T | ||
| ENST00000551114.2:n.727+20C>T | ||
| ENST00000553106.5:c.1065+20C>T | ENSP00000448059.1:n.1065+20C>T | |
| ENST00000635477.1:c.169+20C>T | ||
| ENST00000635528.1:n.580+20C>T | ||
| NM_000277.1:c.1065+20C>T | NP_000268.1:n.1065+20C>T | |
| XM_011538422.1:c.1008+20C>T | XP_011536724.1:n.1008+20C>T | |
| NM_000277.2:c.1065+20C>T | NP_000268.1:n.1065+20C>T | |
| NM_001354304.1:c.1065+20C>T | NP_001341233.1:n.1065+20C>T | |
| NM_000277.3:c.1065+20C>T MANE Select | NP_000268.1:n.1065+20C>T | |
| NM_001354304.2:c.1065+20C>T | NP_001341233.1:n.1065+20C>T |