Linked Data
ClinVar Variation Id:
158394
ClinVar RCV Id:
RCV000145775
dbSNP Id:
rs587783510
gnomAD v4:
16-3728959-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728959G>A , CM000678.2:g.3728959G>A | GRCh38 |
| NC_000016.9:g.3778960G>A , CM000678.1:g.3778960G>A | GRCh37 |
| NC_000016.8:g.3718961G>A | NCBI36 |
| NG_009873.1:g.156162C>T | |
| NG_009873.2:g.156755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6088C>T MANE Select | ENSP00000262367.5:p.Gln2030Ter | |
| ENST00000262367.9:c.6088C>T | ENSP00000262367.5:p.Gln2030Ter | |
| ENST00000382070.7:c.5974C>T | ENSP00000371502.3:p.Gln1992Ter | |
| NM_001079846.1:c.5974C>T | NP_001073315.1:p.Gln1992Ter | |
| NM_004380.2:c.6088C>T | NP_004371.2:p.Gln2030Ter | |
| XM_005255124.3:c.6043C>T | XP_005255181.1:p.Gln2015Ter | |
| XM_005255125.3:c.5671C>T | XP_005255182.1:p.Gln1891Ter | |
| XM_006720848.2:c.5827C>T | XP_006720911.1:p.Gln1943Ter | |
| XM_011522380.1:c.6034C>T | XP_011520682.1:p.Gln2012Ter | |
| XM_011522381.1:c.5335C>T | XP_011520683.1:p.Gln1779Ter | |
| XM_005255124.4:c.6043C>T | XP_005255181.1:p.Gln2015Ter | |
| XM_005255125.4:c.5671C>T | XP_005255182.1:p.Gln1891Ter | |
| XM_006720848.3:c.5827C>T | XP_006720911.1:p.Gln1943Ter | |
| XM_011522381.2:c.5335C>T | XP_011520683.1:p.Gln1779Ter | |
| XM_017022944.1:c.6082C>T | XP_016878433.1:p.Gln2028Ter | |
| NM_004380.3:c.6088C>T MANE Select | NP_004371.2:p.Gln2030Ter |