Linked Data
ClinVar Variation Id:
2726835
ClinVar RCV Id:
RCV003497119
dbSNP Id:
rs1313517488
gnomAD v2:
9-97401455-A-G
gnomAD v4:
9-94639173-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94639173A>G , CM000671.2:g.94639173A>G | GRCh38 |
| NC_000009.11:g.97401455A>G , CM000671.1:g.97401455A>G | GRCh37 |
| NC_000009.10:g.96441276A>G | NCBI36 |
| NG_008174.1:g.6077T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.138T>C | ENSP00000507547.1:p.Ser46= | |
| ENST00000375326.9:c.138T>C MANE Select | ENSP00000364475.5:p.Ser46= | |
| ENST00000375326.8:c.138T>C | ENSP00000364475.4:p.Ser46= | |
| ENST00000414122.1:c.-83+871T>C | ENSP00000411619.1:n.-83+871T>C | |
| ENST00000415431.5:c.138T>C | ENSP00000408025.1:p.Ser46= | |
| NM_000507.3:c.138T>C | NP_000498.2:p.Ser46= | |
| NM_001127628.1:c.138T>C | NP_001121100.1:p.Ser46= | |
| XM_006717005.2:c.-77+871T>C | XP_006717068.1:n.-77+871T>C | |
| XM_006717005.4:c.-77+871T>C | XP_006717068.1:n.-77+871T>C | |
| NM_000507.4:c.138T>C MANE Select | NP_000498.2:p.Ser46= | |
| NM_001127628.2:c.138T>C | NP_001121100.1:p.Ser46= |