Linked Data
ClinVar Variation Id:
2936586
ClinVar RCV Id:
RCV003798824
MyVariant Identifiers:
chr16:g.14042088C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948231C>T , CM000678.2:g.13948231C>T | GRCh38 |
| NC_000016.9:g.14042088C>T , CM000678.1:g.14042088C>T | GRCh37 |
| NC_000016.8:g.13949589C>T | NCBI36 |
| NG_011442.1:g.33075C>T , LRG_463:g.33075C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682617.1:c.2773C>T | ENSP00000507912.1:p.Leu925= | |
| ENST00000683962.1:c.*2329C>T | ENSP00000506854.1:n.*2329C>T | |
| ENST00000311895.8:c.2635C>T MANE Select | ENSP00000310520.7:p.Leu879= | |
| ENST00000311895.7:c.2635C>T | ENSP00000310520.7:p.Leu879= | |
| ENST00000389138.7:n.1912C>T | ||
| NM_005236.2:c.2635C>T , LRG_463t1:c.2635C>T | NP_005227.1:p.Leu879= | |
| XM_011522424.1:c.2773C>T | XP_011520726.1:p.Leu925= | |
| XM_011522425.1:c.2092C>T | XP_011520727.1:p.Leu698= | |
| XM_011522426.1:c.1846C>T | XP_011520728.1:p.Leu616= | |
| XM_011522427.1:c.1285C>T | XP_011520729.1:p.Leu429= | |
| XR_932805.1:n.2794C>T | ||
| XM_011522424.3:c.2773C>T | XP_011520726.1:p.Leu925= | |
| XM_017023043.2:c.1846C>T | XP_016878532.1:p.Leu616= | |
| NM_005236.3:c.2635C>T MANE Select | NP_005227.1:p.Leu879= |