Linked Data
dbSNP Id:
rs782768995
ExAC:
12:6979349 C / G
gnomAD v2:
12-6979349-C-G
gnomAD v4:
12-6870185-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870185C>G , CM000674.2:g.6870185C>G | GRCh38 |
| NC_000012.11:g.6979349C>G , CM000674.1:g.6979349C>G | GRCh37 |
| NC_000012.10:g.6849610C>G | NCBI36 |
| NG_011948.1:g.7766C>G | |
| NG_013308.1:g.8173G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.631+49C>G MANE Select | ENSP00000379933.4:n.631+49C>G | |
| ENST00000229270.8:c.742+49C>G | ENSP00000229270.4:n.742+49C>G | |
| ENST00000396705.9:c.631+49C>G | ENSP00000379933.4:n.631+49C>G | |
| ENST00000474253.1:n.120+49C>G | ||
| ENST00000488464.6:c.385+49C>G | ENSP00000475620.1:n.385+49C>G | |
| ENST00000535434.5:c.385+49C>G | ENSP00000443599.1:n.385+49C>G | |
| ENST00000613953.4:c.742+49C>G | ENSP00000484435.1:n.742+49C>G | |
| NM_000365.5:c.631+49C>G | NP_000356.1:n.631+49C>G | |
| NM_001159287.1:c.742+49C>G | NP_001152759.1:n.742+49C>G | |
| NM_001258026.1:c.385+49C>G | NP_001244955.1:n.385+49C>G | |
| XR_002957378.1:n.1639+49C>G | ||
| NM_000365.6:c.631+49C>G MANE Select | NP_000356.1:n.631+49C>G | |
| NM_001258026.2:c.385+49C>G | NP_001244955.1:n.385+49C>G |