Linked Data
ClinVar Variation Id:
1279334
ClinVar RCV Id:
RCV001691055
dbSNP Id:
rs12831013
gnomAD v2:
12-103245236-G-C
gnomAD v3:
12-102851458-G-C
gnomAD v4:
12-102851458-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851458G>C , CM000674.2:g.102851458G>C | GRCh38 |
| NC_000012.11:g.103245236G>C , CM000674.1:g.103245236G>C | GRCh37 |
| NC_000012.10:g.101769366G>C | NCBI36 |
| NG_008690.1:g.71145C>G | |
| NG_008690.2:g.111953C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.912+229C>G MANE Select | ENSP00000448059.1:n.912+229C>G | |
| ENST00000307000.7:c.897+229C>G | ENSP00000303500.2:n.897+229C>G | |
| ENST00000549247.6:n.671+229C>G | ||
| ENST00000551114.2:n.574+229C>G | ||
| ENST00000553106.5:c.912+229C>G | ENSP00000448059.1:n.912+229C>G | |
| ENST00000635477.1:c.73+229C>G | ||
| NM_000277.1:c.912+229C>G | NP_000268.1:n.912+229C>G | |
| XM_011538422.1:c.912+229C>G | XP_011536724.1:n.912+229C>G | |
| NM_000277.2:c.912+229C>G | NP_000268.1:n.912+229C>G | |
| NM_001354304.1:c.912+229C>G | NP_001341233.1:n.912+229C>G | |
| NM_000277.3:c.912+229C>G MANE Select | NP_000268.1:n.912+229C>G | |
| NM_001354304.2:c.912+229C>G | NP_001341233.1:n.912+229C>G |