Linked Data
ClinVar Variation Id:
1603924
ClinVar RCV Id:
RCV002142317
dbSNP Id:
rs767839320
ExAC:
9:132576257 A / G
gnomAD v2:
9-132576257-A-G
gnomAD v3:
9-129813978-A-G
gnomAD v4:
9-129813978-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813978A>G , CM000671.2:g.129813978A>G | GRCh38 |
| NC_000009.11:g.132576257A>G , CM000671.1:g.132576257A>G | GRCh37 |
| NC_000009.10:g.131616078A>G | NCBI36 |
| NG_008049.1:g.15185T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.993T>C MANE Select | ENSP00000345719.4:p.Asp331= | |
| ENST00000651202.1:c.*261T>C | ENSP00000498222.1:n.*261T>C | |
| ENST00000351698.4:c.993T>C | ENSP00000345719.4:p.Asp331= | |
| ENST00000474192.1:n.577T>C | ||
| NM_000113.2:c.993T>C | NP_000104.1:p.Asp331= | |
| XR_929731.3:n.1188T>C | ||
| NM_000113.3:c.993T>C MANE Select | NP_000104.1:p.Asp331= |