Linked Data
ClinVar Variation Id:
2772292
ClinVar RCV Id:
RCV003574646
gnomAD v4:
16-1362236-C-T
MyVariant Identifiers:
chr16:g.1412237C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362236C>T , CM000678.2:g.1362236C>T | GRCh38 |
| NC_000016.9:g.1412237C>T , CM000678.1:g.1412237C>T | GRCh37 |
| NC_000016.8:g.1352238C>T | NCBI36 |
| NG_016985.1:g.15338C>T | |
| NG_033129.1:g.57469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.541C>T | ||
| ENST00000529110.2:c.526C>T | ENSP00000435349.2:p.Leu176= | |
| ENST00000529957.6:n.500C>T | ||
| ENST00000683366.1:c.*174C>T | ENSP00000507283.1:n.*174C>T | |
| ENST00000683887.1:c.490C>T | ENSP00000506886.1:p.Leu164= | |
| ENST00000684100.1:n.436C>T | ||
| ENST00000684126.1:n.500C>T | ||
| ENST00000684688.1:n.1067C>T | ||
| ENST00000204679.9:c.442C>T MANE Select | ENSP00000204679.4:p.Leu148= | |
| ENST00000204679.8:c.442C>T | ENSP00000204679.4:p.Leu148= | |
| ENST00000527076.1:n.1458C>T | ||
| ENST00000527168.5:n.478C>T | ||
| ENST00000529110.1:c.509C>T | ||
| ENST00000529957.5:n.541C>T | ||
| NM_032520.4:c.442C>T | NP_115909.1:p.Leu148= | |
| XM_017023782.1:c.490C>T | XP_016879271.1:p.Leu164= | |
| XM_017023783.1:c.82C>T | XP_016879272.1:p.Leu28= | |
| NM_032520.5:c.442C>T MANE Select | NP_115909.1:p.Leu148= |