Linked Data
dbSNP Id:
rs201051648
ExAC:
11:72423723 C / A
gnomAD v2:
11-72423723-C-A
gnomAD v3:
11-72712678-C-A
gnomAD v4:
11-72712678-C-A
COSMIC:
COSN2525726
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72712678C>A , CM000673.2:g.72712678C>A | GRCh38 |
| NC_000011.9:g.72423723C>A , CM000673.1:g.72423723C>A | GRCh37 |
| NC_000011.8:g.72101371C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.748-110G>T MANE Select | ENSP00000377233.3:n.748-110G>T | |
| ENST00000334211.12:c.13-110G>T | ENSP00000335506.8:n.13-110G>T | |
| ENST00000359373.9:c.748-110G>T | ENSP00000352332.5:n.748-110G>T | |
| ENST00000393605.7:c.-83G>T | ENSP00000377230.3:n.-83G>T | |
| ENST00000393609.7:c.748-110G>T | ENSP00000377233.3:n.748-110G>T | |
| ENST00000426523.5:c.13-110G>T | ENSP00000392264.1:n.13-110G>T | |
| ENST00000429686.5:c.13-110G>T | ENSP00000403127.1:n.13-110G>T | |
| ENST00000465814.5:n.975G>T | ||
| NM_001040118.2:c.748-110G>T | NP_001035207.1:n.748-110G>T | |
| NM_001135190.1:c.13-110G>T | NP_001128662.1:n.13-110G>T | |
| NM_015242.4:c.13-110G>T | NP_056057.2:n.13-110G>T | |
| NM_001369489.1:c.13-110G>T | NP_001356418.1:n.13-110G>T | |
| NR_161388.1:n.730-110G>T | ||
| NM_001040118.3:c.748-110G>T MANE Select | NP_001035207.1:n.748-110G>T | |
| NM_001135190.2:c.13-110G>T | NP_001128662.1:n.13-110G>T | |
| NM_015242.5:c.13-110G>T | NP_056057.2:n.13-110G>T |