Linked Data
dbSNP Id:
rs376057123
gnomAD v2:
1-112107727-G-A
gnomAD v3:
1-111565105-G-A
gnomAD v4:
1-111565105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111565105G>A , CM000663.2:g.111565105G>A | GRCh38 |
| NC_000001.10:g.112107727G>A , CM000663.1:g.112107727G>A | GRCh37 |
| NC_000001.9:g.111909250G>A | NCBI36 |
| NG_032119.1:g.3871C>T , LRG_424:g.3871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356415.5:c.-28+22596G>A | ENSP00000348786.1:n.-28+22596G>A | |
| XM_017001964.1:c.-28+22596G>A | XP_016857453.1:n.-28+22596G>A | |
| NM_001370216.1:c.-28+22596G>A | NP_001357145.1:n.-28+22596G>A | |
| NM_001370216.2:c.-28+22596G>A | NP_001357145.1:n.-28+22596G>A |