Linked Data
dbSNP Id:
rs1040669288
gnomAD v2:
1-17682742-G-A
gnomAD v3:
1-17356247-G-A
gnomAD v4:
1-17356247-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17356247G>A , CM000663.2:g.17356247G>A | GRCh38 |
| NC_000001.10:g.17682742G>A , CM000663.1:g.17682742G>A | GRCh37 |
| NC_000001.9:g.17555329G>A | NCBI36 |
| NG_023261.2:g.53058G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.1456-110G>A MANE Select | ENSP00000364597.4:n.1456-110G>A | |
| ENST00000467001.1:n.357-110G>A | ||
| ENST00000487048.5:n.423-110G>A | ||
| NM_012387.2:c.1456-110G>A | NP_036519.2:n.1456-110G>A | |
| XM_011541150.1:c.1270-110G>A | XP_011539452.1:n.1270-110G>A | |
| XM_011541151.1:c.1156-110G>A | XP_011539453.1:n.1156-110G>A | |
| XM_011541152.1:c.919-110G>A | XP_011539454.1:n.919-110G>A | |
| XM_011541157.1:c.565-110G>A | XP_011539459.1:n.565-110G>A | |
| NM_012387.3:c.1456-110G>A MANE Select | NP_036519.2:n.1456-110G>A |