Linked Data
ClinVar Variation Id:
463969
ClinVar RCV Id:
RCV000531609
dbSNP Id:
rs1555888762
gnomAD v4:
22-25225024-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25225024T>G , CM000684.2:g.25225024T>G | GRCh38 |
| NC_000022.10:g.25620991T>G , CM000684.1:g.25620991T>G | GRCh37 |
| NC_000022.9:g.23950991T>G | NCBI36 |
| NG_009827.1:g.10380T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398215.3:c.161T>G MANE Select | ENSP00000381273.2:p.Val54Gly | |
| ENST00000651629.1:c.161T>G | ENSP00000498905.1:p.Val54Gly | |
| ENST00000398215.2:c.161T>G | ENSP00000381273.2:p.Val54Gly | |
| NM_000496.2:c.161T>G | NP_000487.1:p.Val54Gly | |
| XM_006724141.2:c.161T>G | XP_006724204.1:p.Val54Gly | |
| XM_011529900.1:c.161T>G | XP_011528202.1:p.Val54Gly | |
| XM_011529901.1:c.161T>G | XP_011528203.1:p.Val54Gly | |
| XM_006724141.3:c.161T>G | XP_006724204.1:p.Val54Gly | |
| XM_011529900.2:c.161T>G | XP_011528202.1:p.Val54Gly | |
| NM_000496.3:c.161T>G MANE Select | NP_000487.1:p.Val54Gly |