Linked Data
dbSNP Id:
rs2301888
gnomAD v2:
1-17672730-G-A
gnomAD v3:
1-17346235-G-A
gnomAD v4:
1-17346235-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17346235G>A , CM000663.2:g.17346235G>A | GRCh38 |
| NC_000001.10:g.17672730G>A , CM000663.1:g.17672730G>A | GRCh37 |
| NC_000001.9:g.17545317G>A | NCBI36 |
| NG_023261.2:g.43046G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.1047+96G>A MANE Select | ENSP00000364597.4:n.1047+96G>A | |
| ENST00000468945.1:n.106+96G>A | ||
| NM_012387.2:c.1047+96G>A | NP_036519.2:n.1047+96G>A | |
| XM_011541150.1:c.861+96G>A | XP_011539452.1:n.861+96G>A | |
| XM_011541151.1:c.1047+96G>A | XP_011539453.1:n.1047+96G>A | |
| XM_011541152.1:c.510+96G>A | XP_011539454.1:n.510+96G>A | |
| XM_011541153.1:c.1047+96G>A | XP_011539455.1:n.1047+96G>A | |
| XM_011541154.1:c.1047+96G>A | XP_011539456.1:n.1047+96G>A | |
| XM_011541155.1:c.1047+96G>A | XP_011539457.1:n.1047+96G>A | |
| XM_011541156.1:c.1047+96G>A | XP_011539458.1:n.1047+96G>A | |
| XM_011541157.1:c.156+96G>A | XP_011539459.1:n.156+96G>A | |
| XM_011541154.2:c.1047+96G>A | XP_011539456.1:n.1047+96G>A | |
| NM_012387.3:c.1047+96G>A MANE Select | NP_036519.2:n.1047+96G>A |