Linked Data
ClinVar Variation Id:
1627845
ClinVar RCV Id:
RCV002114294
dbSNP Id:
rs2143595211
gnomAD v4:
16-81889192-G-C
MyVariant Identifiers:
chr16:g.81922797G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81889192G>C , CM000678.2:g.81889192G>C | GRCh38 |
| NC_000016.9:g.81922797G>C , CM000678.1:g.81922797G>C | GRCh37 |
| NC_000016.8:g.80480298G>C | NCBI36 |
| NG_032019.2:g.155096G>C , LRG_376:g.155096G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563193.2:c.786G>C | ENSP00000455533.2:p.Leu262= | |
| ENST00000697561.1:c.*215G>C | ENSP00000513337.1:n.*215G>C | |
| ENST00000697562.1:c.786G>C | ENSP00000513338.1:p.Leu262= | |
| ENST00000697563.1:c.*632G>C | ENSP00000513339.1:n.*632G>C | |
| ENST00000697564.1:c.669G>C | ENSP00000513340.1:p.Leu223= | |
| ENST00000697565.1:n.726G>C | ||
| ENST00000697581.1:c.*780G>C | ENSP00000513346.1:n.*780G>C | |
| ENST00000697582.1:c.786G>C | ENSP00000513347.1:p.Leu262= | |
| ENST00000697583.1:c.585G>C | ENSP00000513349.1:p.Leu195= | |
| ENST00000697584.1:c.585G>C | ENSP00000513350.1:p.Leu195= | |
| ENST00000697585.1:c.585G>C | ENSP00000513351.1:p.Leu195= | |
| ENST00000697586.1:c.585G>C | ENSP00000513352.1:p.Leu195= | |
| ENST00000697587.1:c.585G>C | ENSP00000513353.1:p.Leu195= | |
| ENST00000564138.6:c.786G>C MANE Select | ENSP00000482457.1:p.Leu262= | |
| ENST00000359376.7:c.786G>C | ENSP00000352336.4:p.Leu262= | |
| ENST00000563193.1:c.94G>C | ||
| ENST00000564138.5:c.786G>C | ENSP00000482457.1:p.Leu262= | |
| ENST00000567980.5:n.1030G>C | ||
| NM_002661.4:c.786G>C | NP_002652.2:p.Leu262= | |
| XM_011523108.1:c.900G>C | XP_011521410.1:p.Leu300= | |
| NM_002661.5:c.786G>C MANE Select | NP_002652.2:p.Leu262= |