Linked Data
ClinVar Variation Id:
796258
ClinVar RCV Id:
RCV000979630
dbSNP Id:
rs200400876
ExAC:
16:1555455 C / T
gnomAD v2:
16-1555455-C-T
gnomAD v3:
16-1505454-C-T
gnomAD v4:
16-1505454-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1505454C>T , CM000678.2:g.1505454C>T | GRCh38 |
| NC_000016.9:g.1555455C>T , CM000678.1:g.1555455C>T | GRCh37 |
| NC_000016.8:g.1495456C>T | NCBI36 |
| NG_050910.1:g.17111C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262319.11:c.1887C>T MANE Select | ENSP00000262319.6:p.Leu629= | |
| ENST00000262319.10:c.1887C>T | ENSP00000262319.6:p.Leu629= | |
| ENST00000497339.6:c.1228-819C>T | ENSP00000456383.1:n.1228-819C>T | |
| ENST00000563676.1:n.14C>T | ||
| ENST00000564507.5:n.482C>T | ||
| ENST00000567423.1:c.307C>T | ||
| ENST00000567427.1:n.86C>T | ||
| ENST00000569744.1:n.316C>T | ||
| NM_016111.3:c.1887C>T | NP_057195.2:p.Leu629= | |
| XM_006720993.2:c.1887C>T | XP_006721056.1:p.Leu629= | |
| XM_011522773.1:c.1887C>T | XP_011521075.1:p.Leu629= | |
| XM_011522774.1:c.1887C>T | XP_011521076.1:p.Leu629= | |
| XM_011522775.1:c.1887C>T | XP_011521077.1:p.Leu629= | |
| XM_011522776.1:c.1887C>T | XP_011521078.1:p.Leu629= | |
| XM_011522777.1:c.1887C>T | XP_011521079.1:p.Leu629= | |
| XM_011522778.1:c.1887C>T | XP_011521080.1:p.Leu629= | |
| XR_932982.1:n.2173C>T | ||
| XR_932983.1:n.2093C>T | ||
| NM_001351846.1:c.1887C>T | NP_001338775.1:p.Leu629= | |
| XM_011522773.3:c.1887C>T | XP_011521075.1:p.Leu629= | |
| XM_011522774.2:c.1887C>T | XP_011521076.1:p.Leu629= | |
| XM_011522775.3:c.1887C>T | XP_011521077.1:p.Leu629= | |
| XM_011522776.2:c.1887C>T | XP_011521078.1:p.Leu629= | |
| XM_011522777.3:c.1887C>T | XP_011521079.1:p.Leu629= | |
| XM_011522778.3:c.1887C>T | XP_011521080.1:p.Leu629= | |
| XR_001752042.2:n.1951C>T | ||
| XR_001752043.2:n.1934C>T | ||
| XR_001752044.2:n.1871C>T | ||
| XR_932982.3:n.1951C>T | ||
| NM_016111.4:c.1887C>T MANE Select | NP_057195.2:p.Leu629= | |
| NM_001351846.2:c.1887C>T | NP_001338775.1:p.Leu629= |