Linked Data
dbSNP Id:
rs762205695
ExAC:
12:103245565 G / C
gnomAD v2:
12-103245565-G-C
gnomAD v4:
12-102851787-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851787G>C , CM000674.2:g.102851787G>C | GRCh38 |
| NC_000012.11:g.103245565G>C , CM000674.1:g.103245565G>C | GRCh37 |
| NC_000012.10:g.101769695G>C | NCBI36 |
| NG_008690.1:g.70816C>G | |
| NG_008690.2:g.111624C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.843-31C>G MANE Select | ENSP00000448059.1:n.843-31C>G | |
| ENST00000307000.7:c.828-31C>G | ENSP00000303500.2:n.828-31C>G | |
| ENST00000549247.6:n.602-31C>G | ||
| ENST00000551114.2:n.474C>G | ||
| ENST00000553106.5:c.843-31C>G | ENSP00000448059.1:n.843-31C>G | |
| ENST00000635477.1:c.4-31C>G | ||
| NM_000277.1:c.843-31C>G | NP_000268.1:n.843-31C>G | |
| XM_011538422.1:c.843-31C>G | XP_011536724.1:n.843-31C>G | |
| NM_000277.2:c.843-31C>G | NP_000268.1:n.843-31C>G | |
| NM_001354304.1:c.843-31C>G | NP_001341233.1:n.843-31C>G | |
| NM_000277.3:c.843-31C>G MANE Select | NP_000268.1:n.843-31C>G | |
| NM_001354304.2:c.843-31C>G | NP_001341233.1:n.843-31C>G |