Linked Data
dbSNP Id:
rs1055780118
gnomAD v4:
9-94639152-G-T
MyVariant Identifiers:
chr9:g.97401434G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94639152G>T , CM000671.2:g.94639152G>T | GRCh38 |
| NC_000009.11:g.97401434G>T , CM000671.1:g.97401434G>T | GRCh37 |
| NC_000009.10:g.96441255G>T | NCBI36 |
| NG_008174.1:g.6098C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.159C>A | ENSP00000507547.1:p.Gly53= | |
| ENST00000375326.9:c.159C>A MANE Select | ENSP00000364475.5:p.Gly53= | |
| ENST00000375326.8:c.159C>A | ENSP00000364475.4:p.Gly53= | |
| ENST00000414122.1:c.-83+892C>A | ENSP00000411619.1:n.-83+892C>A | |
| ENST00000415431.5:c.159C>A | ENSP00000408025.1:p.Gly53= | |
| NM_000507.3:c.159C>A | NP_000498.2:p.Gly53= | |
| NM_001127628.1:c.159C>A | NP_001121100.1:p.Gly53= | |
| XM_006717005.2:c.-77+892C>A | XP_006717068.1:n.-77+892C>A | |
| XM_006717005.4:c.-77+892C>A | XP_006717068.1:n.-77+892C>A | |
| NM_000507.4:c.159C>A MANE Select | NP_000498.2:p.Gly53= | |
| NM_001127628.2:c.159C>A | NP_001121100.1:p.Gly53= |