Linked Data
ClinVar Variation Id:
475393
dbSNP Id:
rs144424711
ExAC:
16:85952023 C / T
gnomAD v2:
16-85952023-C-T
gnomAD v3:
16-85918417-C-T
gnomAD v4:
16-85918417-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.85918417C>T , CM000678.2:g.85918417C>T | GRCh38 |
| NC_000016.9:g.85952023C>T , CM000678.1:g.85952023C>T | GRCh37 |
| NC_000016.8:g.84509524C>T | NCBI36 |
| NG_029333.1:g.24250C>T , LRG_294:g.24250C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000564803.6:c.602C>T | ENSP00000456992.2:p.Ala201Val | |
| ENST00000566369.2:c.448-1692C>T | ENSP00000455048.2:n.448-1692C>T | |
| ENST00000569607.2:c.-11C>T | ENSP00000456395.2:n.-11C>T | |
| ENST00000696884.1:c.*34C>T | ENSP00000512951.1:n.*34C>T | |
| ENST00000696885.1:c.*1080C>T | ENSP00000512952.1:n.*1080C>T | |
| ENST00000696886.1:n.2735C>T | ||
| ENST00000696887.1:c.602C>T | ENSP00000512953.1:p.Ala201Val | |
| ENST00000696890.1:n.549C>T | ||
| ENST00000268638.10:c.602C>T MANE Select | ENSP00000268638.4:p.Ala201Val | |
| ENST00000268638.9:c.602C>T | ENSP00000268638.4:p.Ala201Val | |
| ENST00000562492.5:c.-11C>T | ENSP00000455452.1:n.-11C>T | |
| ENST00000564803.5:c.602C>T | ENSP00000456992.1:p.Ala201Val | |
| ENST00000566369.1:c.276-1692C>T | ||
| ENST00000569145.5:c.-30C>T | ENSP00000455760.1:n.-30C>T | |
| ENST00000569607.1:c.-11C>T | ENSP00000456395.1:n.-11C>T | |
| NM_002163.2:c.602C>T , LRG_294t1:c.602C>T | NP_002154.1:p.Ala201Val | |
| XM_011523064.1:c.-11C>T | XP_011521366.1:n.-11C>T | |
| NM_001363907.1:c.632C>T | NP_001350836.1:p.Ala211Val | |
| NM_001363908.1:c.-11C>T | NP_001350837.1:n.-11C>T | |
| NM_002163.3:c.602C>T | NP_002154.1:p.Ala201Val | |
| NM_002163.4:c.602C>T MANE Select | NP_002154.1:p.Ala201Val |