Linked Data
ClinVar Variation Id:
1920595
ClinVar RCV Id:
RCV002591232
dbSNP Id:
rs923721014
gnomAD v2:
1-215972293-T-G
gnomAD v3:
1-215798951-T-G
gnomAD v4:
1-215798951-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215798951T>G , CM000663.2:g.215798951T>G | GRCh38 |
| NC_000001.10:g.215972293T>G , CM000663.1:g.215972293T>G | GRCh37 |
| NC_000001.9:g.214038916T>G | NCBI36 |
| NG_009497.1:g.629446A>C | |
| NG_009497.2:g.629498A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9914A>C MANE Select | ENSP00000305941.3:p.Glu3305Ala | |
| ENST00000674083.1:c.9914A>C | ENSP00000501296.1:p.Glu3305Ala | |
| ENST00000307340.7:c.9914A>C | ENSP00000305941.3:p.Glu3305Ala | |
| NM_206933.2:c.9914A>C | NP_996816.2:p.Glu3305Ala | |
| NM_206933.3:c.9914A>C | NP_996816.2:p.Glu3305Ala | |
| NM_206933.4:c.9914A>C MANE Select | NP_996816.3:p.Glu3305Ala |