Linked Data
dbSNP Id:
rs777725807
ExAC:
11:72423693 G / C
gnomAD v2:
11-72423693-G-C
gnomAD v4:
11-72712648-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72712648G>C , CM000673.2:g.72712648G>C | GRCh38 |
| NC_000011.9:g.72423693G>C , CM000673.1:g.72423693G>C | GRCh37 |
| NC_000011.8:g.72101341G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.748-80C>G MANE Select | ENSP00000377233.3:n.748-80C>G | |
| ENST00000334211.12:c.13-80C>G | ENSP00000335506.8:n.13-80C>G | |
| ENST00000359373.9:c.748-80C>G | ENSP00000352332.5:n.748-80C>G | |
| ENST00000393605.7:c.-53C>G | ENSP00000377230.3:n.-53C>G | |
| ENST00000393609.7:c.748-80C>G | ENSP00000377233.3:n.748-80C>G | |
| ENST00000426523.5:c.13-80C>G | ENSP00000392264.1:n.13-80C>G | |
| ENST00000429686.5:c.13-80C>G | ENSP00000403127.1:n.13-80C>G | |
| ENST00000465814.5:n.1005C>G | ||
| NM_001040118.2:c.748-80C>G | NP_001035207.1:n.748-80C>G | |
| NM_001135190.1:c.13-80C>G | NP_001128662.1:n.13-80C>G | |
| NM_015242.4:c.13-80C>G | NP_056057.2:n.13-80C>G | |
| NM_001369489.1:c.13-80C>G | NP_001356418.1:n.13-80C>G | |
| NR_161388.1:n.730-80C>G | ||
| NM_001040118.3:c.748-80C>G MANE Select | NP_001035207.1:n.748-80C>G | |
| NM_001135190.2:c.13-80C>G | NP_001128662.1:n.13-80C>G | |
| NM_015242.5:c.13-80C>G | NP_056057.2:n.13-80C>G |