Linked Data
ClinVar Variation Id:
998306
ClinVar RCV Id:
RCV001294107
dbSNP Id:
rs2031938186
gnomAD v4:
16-13920182-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13920182C>T , CM000678.2:g.13920182C>T | GRCh38 |
| NC_000016.9:g.14014039C>T , CM000678.1:g.14014039C>T | GRCh37 |
| NC_000016.8:g.13921540C>T | NCBI36 |
| NG_011442.1:g.5026C>T , LRG_463:g.5026C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.5C>T | ||
| ENST00000682617.1:c.17C>T | ENSP00000507912.1:p.Pro6Leu | |
| ENST00000682826.1:c.17C>T | ENSP00000507274.1:p.Pro6Leu | |
| ENST00000682909.1:n.26C>T | ||
| ENST00000683277.1:n.4C>T | ||
| ENST00000683407.1:n.25C>T | ||
| ENST00000683962.1:c.17C>T | ENSP00000506854.1:p.Pro6Leu | |
| ENST00000311895.8:c.17C>T MANE Select | ENSP00000310520.7:p.Pro6Leu | |
| ENST00000311895.7:c.17C>T | ENSP00000310520.7:p.Pro6Leu | |
| ENST00000575156.5:c.17C>T | ENSP00000459933.1:p.Pro6Leu | |
| NM_005236.2:c.17C>T , LRG_463t1:c.17C>T | NP_005227.1:p.Pro6Leu | |
| XM_011522424.1:c.17C>T | XP_011520726.1:p.Pro6Leu | |
| XR_932805.1:n.38C>T | ||
| XR_933098.1:n.82+6343G>A | ||
| XR_933099.1:n.82+6343G>A | ||
| XR_933100.1:n.82+6343G>A | ||
| XM_011522424.3:c.17C>T | XP_011520726.1:p.Pro6Leu | |
| NM_005236.3:c.17C>T MANE Select | NP_005227.1:p.Pro6Leu |