Linked Data
ClinVar Variation Id:
102894
dbSNP Id:
rs62517165
gnomAD v2:
12-103240736-T-C
gnomAD v3:
12-102846958-T-C
gnomAD v4:
12-102846958-T-C
ERepo:
CA229848/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846958T>C , CM000674.2:g.102846958T>C | GRCh38 |
| NC_000012.11:g.103240736T>C , CM000674.1:g.103240736T>C | GRCh37 |
| NC_000012.10:g.101764866T>C | NCBI36 |
| NG_008690.1:g.75645A>G | |
| NG_008690.2:g.116453A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.913-7A>G MANE Select | ENSP00000448059.1:n.913-7A>G | |
| ENST00000307000.7:c.898-7A>G | ENSP00000303500.2:n.898-7A>G | |
| ENST00000549247.6:n.672-7A>G | ||
| ENST00000551114.2:n.575-7A>G | ||
| ENST00000553106.5:c.913-7A>G | ENSP00000448059.1:n.913-7A>G | |
| ENST00000635477.1:c.74-2527A>G | ||
| ENST00000635528.1:n.421A>G | ||
| NM_000277.1:c.913-7A>G | NP_000268.1:n.913-7A>G | |
| XM_011538422.1:c.913-2527A>G | XP_011536724.1:n.913-2527A>G | |
| NM_000277.2:c.913-7A>G | NP_000268.1:n.913-7A>G | |
| NM_001354304.1:c.913-7A>G | NP_001341233.1:n.913-7A>G | |
| NM_000277.3:c.913-7A>G MANE Select | NP_000268.1:n.913-7A>G | |
| NM_001354304.2:c.913-7A>G | NP_001341233.1:n.913-7A>G |