Linked Data
ClinVar Variation Id:
846009
dbSNP Id:
rs2084376094
gnomAD v3:
16-2046258-T-C
gnomAD v4:
16-2046258-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046258T>C , CM000678.2:g.2046258T>C | GRCh38 |
| NC_000016.9:g.2096259T>C , CM000678.1:g.2096259T>C | GRCh37 |
| NC_000016.8:g.2036260T>C | NCBI36 |
| NG_005895.1:g.1953T>C , LRG_487:g.1953T>C | |
| NG_008412.1:g.6609A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.224A>G MANE Select | ENSP00000498421.1:p.Lys75Arg | |
| ENST00000651583.1:c.179A>G | ENSP00000498821.1:p.Lys60Arg | |
| ENST00000219066.5:c.248A>G | ENSP00000219066.1:p.Lys83Arg | |
| ENST00000561841.1:c.144A>G | ||
| ENST00000566380.5:c.187A>G | ||
| ENST00000568513.5:c.173+22A>G | ||
| NM_002528.5:c.248A>G | NP_002519.1:p.Lys83Arg | |
| XM_011522505.1:c.248A>G | XP_011520807.1:p.Lys83Arg | |
| NM_001318193.1:c.248A>G | NP_001305122.1:p.Lys83Arg | |
| NM_001318194.1:c.24+22A>G | NP_001305123.1:n.24+22A>G | |
| NM_002528.6:c.248A>G | NP_002519.1:p.Lys83Arg | |
| XM_017023253.1:c.248A>G | XP_016878742.1:p.Lys83Arg | |
| NM_001318193.2:c.224A>G | NP_001305122.2:p.Lys75Arg | |
| NM_002528.7:c.224A>G MANE Select | NP_002519.2:p.Lys75Arg | |
| NM_001318194.2:c.24+22A>G | NP_001305123.1:n.24+22A>G |