Linked Data
ClinVar Variation Id:
158399
ClinVar RCV Id:
RCV003593919
dbSNP Id:
rs182347573
ExAC:
16:3778008 G / A
gnomAD v2:
16-3778008-G-A
gnomAD v3:
16-3728007-G-A
gnomAD v4:
16-3728007-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728007G>A , CM000678.2:g.3728007G>A | GRCh38 |
| NC_000016.9:g.3778008G>A , CM000678.1:g.3778008G>A | GRCh37 |
| NC_000016.8:g.3718009G>A | NCBI36 |
| NG_009873.1:g.157114C>T | |
| NG_009873.2:g.157707C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.7040C>T MANE Select | ENSP00000262367.5:p.Ala2347Val | |
| ENST00000262367.9:c.7040C>T | ENSP00000262367.5:p.Ala2347Val | |
| ENST00000382070.7:c.6926C>T | ENSP00000371502.3:p.Ala2309Val | |
| NM_001079846.1:c.6926C>T | NP_001073315.1:p.Ala2309Val | |
| NM_004380.2:c.7040C>T | NP_004371.2:p.Ala2347Val | |
| XM_005255124.3:c.6995C>T | XP_005255181.1:p.Ala2332Val | |
| XM_005255125.3:c.6623C>T | XP_005255182.1:p.Ala2208Val | |
| XM_006720848.2:c.6779C>T | XP_006720911.1:p.Ala2260Val | |
| XM_011522380.1:c.6986C>T | XP_011520682.1:p.Ala2329Val | |
| XM_011522381.1:c.6287C>T | XP_011520683.1:p.Ala2096Val | |
| XM_005255124.4:c.6995C>T | XP_005255181.1:p.Ala2332Val | |
| XM_005255125.4:c.6623C>T | XP_005255182.1:p.Ala2208Val | |
| XM_006720848.3:c.6779C>T | XP_006720911.1:p.Ala2260Val | |
| XM_011522381.2:c.6287C>T | XP_011520683.1:p.Ala2096Val | |
| XM_017022944.1:c.7034C>T | XP_016878433.1:p.Ala2345Val | |
| NM_004380.3:c.7040C>T MANE Select | NP_004371.2:p.Ala2347Val |