Linked Data
dbSNP Id:
rs1373755489
gnomAD v2:
22-42462676-G-A
gnomAD v3:
22-42066672-G-A
gnomAD v4:
22-42066672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42066672G>A , CM000684.2:g.42066672G>A | GRCh38 |
| NC_000022.10:g.42462676G>A , CM000684.1:g.42462676G>A | GRCh37 |
| NC_000022.9:g.40792622G>A | NCBI36 |
| NG_009247.1:g.9171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.597+38C>T MANE Select | ENSP00000379680.3:n.597+38C>T | |
| ENST00000396398.7:c.597+38C>T | ENSP00000379680.3:n.597+38C>T | |
| ENST00000402937.1:c.597+38C>T | ENSP00000384603.1:n.597+38C>T | |
| ENST00000403363.5:c.597+38C>T | ENSP00000385283.1:n.597+38C>T | |
| NM_000262.2:c.597+38C>T | NP_000253.1:n.597+38C>T | |
| XM_005261615.3:c.597+38C>T | XP_005261672.1:n.597+38C>T | |
| XM_005261616.3:c.597+38C>T | XP_005261673.1:n.597+38C>T | |
| NM_001362848.1:c.597+38C>T | NP_001349777.1:n.597+38C>T | |
| NM_001362850.1:c.597+38C>T | NP_001349779.1:n.597+38C>T | |
| NM_000262.3:c.597+38C>T MANE Select | NP_000253.1:n.597+38C>T |