Linked Data
dbSNP Id:
rs1568914031
gnomAD v2:
22-17566031-G-T
gnomAD v4:
22-17085141-G-T
MyVariant Identifiers:
chr22:g.17566031G>T (hg19)
chr22:g.17566031_17566040delinsTGCTGCTCCT (hg19)
chr22:g.17085141G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085141G>T , CM000684.2:g.17085141G>T | GRCh38 |
| NC_000022.10:g.17566031G>T , CM000684.1:g.17566031G>T | GRCh37 |
| NC_000022.9:g.15946031G>T | NCBI36 |
| NG_028257.1:g.5181G>T , LRG_355:g.5181G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.50G>T | ENSP00000479970.1:p.Gly17Val | |
| ENST00000694948.1:n.148G>T | ||
| ENST00000694949.1:n.145G>T | ||
| ENST00000694950.1:c.130G>T | ||
| ENST00000319363.11:c.50G>T MANE Select | ENSP00000320936.6:p.Gly17Val | |
| ENST00000319363.10:c.50G>T | ENSP00000320936.6:p.Gly17Val | |
| ENST00000459971.1:n.85G>T | ||
| ENST00000477874.1:n.188G>T | ||
| ENST00000612619.1:c.50G>T | ENSP00000479970.1:p.Gly17Val | |
| NM_001289905.1:c.50G>T | NP_001276834.1:p.Gly17Val | |
| NM_014339.6:c.50G>T , LRG_355t1:c.50G>T | NP_055154.3:p.Gly17Val | |
| NM_014339.7:c.50G>T MANE Select | NP_055154.3:p.Gly17Val | |
| NM_001289905.2:c.50G>T | NP_001276834.1:p.Gly17Val |