Linked Data
ClinVar Variation Id:
2156061
dbSNP Id:
rs1260567316
gnomAD v2:
9-132576254-A-G
gnomAD v3:
9-129813975-A-G
gnomAD v4:
9-129813975-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813975A>G , CM000671.2:g.129813975A>G | GRCh38 |
| NC_000009.11:g.132576254A>G , CM000671.1:g.132576254A>G | GRCh37 |
| NC_000009.10:g.131616075A>G | NCBI36 |
| NG_008049.1:g.15188T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.996T>C MANE Select | ENSP00000345719.4:p.Asp332= | |
| ENST00000651202.1:c.*264T>C | ENSP00000498222.1:n.*264T>C | |
| ENST00000351698.4:c.996T>C | ENSP00000345719.4:p.Asp332= | |
| ENST00000474192.1:n.580T>C | ||
| NM_000113.2:c.996T>C | NP_000104.1:p.Asp332= | |
| XR_929731.3:n.1191T>C | ||
| NM_000113.3:c.996T>C MANE Select | NP_000104.1:p.Asp332= |