Linked Data
ClinVar Variation Id:
1728266
ClinVar RCV Id:
RCV002320898
MyVariant Identifiers:
chr16:g.2096192T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046191T>C , CM000678.2:g.2046191T>C | GRCh38 |
| NC_000016.9:g.2096192T>C , CM000678.1:g.2096192T>C | GRCh37 |
| NC_000016.8:g.2036193T>C | NCBI36 |
| NG_005895.1:g.1886T>C , LRG_487:g.1886T>C | |
| NG_008412.1:g.6676A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.291A>G MANE Select | ENSP00000498421.1:p.Lys97= | |
| ENST00000651583.1:c.246A>G | ENSP00000498821.1:p.Lys82= | |
| ENST00000219066.5:c.315A>G | ENSP00000219066.1:p.Lys105= | |
| ENST00000561841.1:c.211A>G | ||
| ENST00000562120.1:n.24A>G | ||
| ENST00000566380.5:c.254A>G | ||
| ENST00000568513.5:c.173+89A>G | ||
| NM_002528.5:c.315A>G | NP_002519.1:p.Lys105= | |
| XM_011522505.1:c.315A>G | XP_011520807.1:p.Lys105= | |
| NM_001318193.1:c.315A>G | NP_001305122.1:p.Lys105= | |
| NM_001318194.1:c.24+89A>G | NP_001305123.1:n.24+89A>G | |
| NM_002528.6:c.315A>G | NP_002519.1:p.Lys105= | |
| XM_017023253.1:c.315A>G | XP_016878742.1:p.Lys105= | |
| NM_001318193.2:c.291A>G | NP_001305122.2:p.Lys97= | |
| NM_002528.7:c.291A>G MANE Select | NP_002519.2:p.Lys97= | |
| NM_001318194.2:c.24+89A>G | NP_001305123.1:n.24+89A>G |