Linked Data
dbSNP Id:
rs891812745
gnomAD v2:
15-66995566-C-G
gnomAD v3:
15-66703228-C-G
gnomAD v4:
15-66703228-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703228C>G , CM000677.2:g.66703228C>G | GRCh38 |
| NC_000015.9:g.66995566C>G , CM000677.1:g.66995566C>G | GRCh37 |
| NC_000015.8:g.64782620C>G | NCBI36 |
| NG_012244.1:g.5893C>G | |
| NG_012244.2:g.5893C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.-31C>G MANE Select | ENSP00000288840.5:n.-31C>G | |
| ENST00000288840.9:c.-31C>G | ENSP00000288840.5:n.-31C>G | |
| ENST00000612349.1:n.152C>G | ||
| NM_005585.4:c.-31C>G | NP_005576.3:n.-31C>G | |
| NR_027654.1:n.893C>G | ||
| XR_931825.1:n.1129C>G | ||
| XR_931826.1:n.1129C>G | ||
| XR_931827.1:n.1129C>G | ||
| XR_931827.2:n.1119C>G | ||
| NM_005585.5:c.-31C>G MANE Select | NP_005576.3:n.-31C>G | |
| NR_027654.2:n.993C>G |