Linked Data
ClinVar Variation Id:
337566
dbSNP Id:
rs138291954
ExAC:
2:96967446 A / G
gnomAD v2:
2-96967446-A-G
gnomAD v3:
2-96301708-A-G
gnomAD v4:
2-96301708-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96301708A>G , CM000664.2:g.96301708A>G | GRCh38 |
| NC_000002.11:g.96967446A>G , CM000664.1:g.96967446A>G | GRCh37 |
| NC_000002.10:g.96331173A>G | NCBI36 |
| NG_016973.1:g.8852T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.390T>C MANE Select | ENSP00000317123.5:p.Asp130= | |
| ENST00000652267.1:c.390T>C | ENSP00000498933.1:p.Asp130= | |
| ENST00000323853.9:c.390T>C | ENSP00000317123.5:p.Asp130= | |
| NM_014014.4:c.390T>C | NP_054733.2:p.Asp130= | |
| NM_014014.5:c.390T>C MANE Select | NP_054733.2:p.Asp130= |