Linked Data
ClinVar Variation Id:
158798
dbSNP Id:
rs2297995
ExAC:
14:50769717 G / A
gnomAD v2:
14-50769717-G-A
gnomAD v3:
14-50302999-G-A
gnomAD v4:
14-50302999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50302999G>A , CM000676.2:g.50302999G>A | GRCh38 |
| NC_000014.8:g.50769717G>A , CM000676.1:g.50769717G>A | GRCh37 |
| NC_000014.7:g.49839467G>A | NCBI36 |
| NG_008092.1:g.14231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267436.9:c.159C>T MANE Select | ENSP00000267436.4:p.Ile53= | |
| ENST00000261699.8:c.159C>T | ENSP00000261699.4:p.Ile53= | |
| ENST00000267436.8:c.159C>T | ENSP00000267436.4:p.Ile53= | |
| ENST00000421284.7:c.159C>T | ENSP00000405559.3:p.Ile53= | |
| ENST00000554191.5:c.*22C>T | ENSP00000451194.1:n.*22C>T | |
| ENST00000555423.5:c.159C>T | ENSP00000450494.1:p.Ile53= | |
| ENST00000555610.1:c.159C>T | ENSP00000452483.1:p.Ile53= | |
| ENST00000556393.1:n.299C>T | ||
| NM_024884.2:c.159C>T | NP_079160.1:p.Ile53= | |
| XM_005268075.3:c.159C>T | XP_005268132.1:p.Ile53= | |
| XM_011537166.1:c.48C>T | XP_011535468.1:p.Ile16= | |
| XM_011537167.1:c.24C>T | XP_011535469.1:p.Ile8= | |
| XR_943538.1:n.398C>T | ||
| XM_005268075.5:c.159C>T | XP_005268132.1:p.Ile53= | |
| XM_011537166.3:c.48C>T | XP_011535468.1:p.Ile16= | |
| XM_011537167.3:c.24C>T | XP_011535469.1:p.Ile8= | |
| XM_017021655.2:c.48C>T | XP_016877144.1:p.Ile16= | |
| XM_017021656.2:c.-467C>T | XP_016877145.1:n.-467C>T | |
| XM_017021657.2:c.-467C>T | XP_016877146.1:n.-467C>T | |
| XM_017021658.1:c.159C>T | XP_016877147.1:p.Ile53= | |
| NM_024884.3:c.159C>T MANE Select | NP_079160.1:p.Ile53= |