Linked Data
dbSNP Id:
rs55781567
gnomAD v2:
15-78857986-C-G
gnomAD v3:
15-78565644-C-G
gnomAD v4:
15-78565644-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78565644C>G , CM000677.2:g.78565644C>G | GRCh38 |
| NC_000015.9:g.78857986C>G , CM000677.1:g.78857986C>G | GRCh37 |
| NC_000015.8:g.76645041C>G | NCBI36 |
| NG_023328.1:g.5125C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299565.9:c.-76C>G MANE Select | ENSP00000299565.5:n.-76C>G | |
| ENST00000559554.5:c.-76C>G | ENSP00000453519.1:n.-76C>G | |
| NM_000745.3:c.-76C>G | NP_000736.2:n.-76C>G | |
| NM_001307945.1:c.-76C>G | NP_001294874.1:n.-76C>G | |
| XM_005254142.2:c.-76C>G | XP_005254199.1:n.-76C>G | |
| NM_001307945.2:c.-76C>G | NP_001294874.1:n.-76C>G | |
| NM_000745.4:c.-76C>G MANE Select | NP_000736.2:n.-76C>G | |
| NM_001395171.1:c.-76C>G | NP_001382100.1:n.-76C>G | |
| NM_001395172.1:c.-76C>G | NP_001382101.1:n.-76C>G | |
| NM_001395173.1:c.-76C>G | NP_001382102.1:n.-76C>G | |
| NM_001395174.1:c.-76C>G | NP_001382103.1:n.-76C>G | |
| NM_001395175.1:c.-76C>G | NP_001382104.1:n.-76C>G |