Linked Data
ClinVar Variation Id:
786572
ClinVar RCV Id:
RCV000968644
dbSNP Id:
rs111544516
ExAC:
9:78638689 C / T
gnomAD v2:
9-78638689-C-T
gnomAD v3:
9-76023773-C-T
gnomAD v4:
9-76023773-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.76023773C>T , CM000671.2:g.76023773C>T | GRCh38 |
| NC_000009.11:g.78638689C>T , CM000671.1:g.78638689C>T | GRCh37 |
| NC_000009.10:g.77828509C>T | NCBI36 |
| NG_029445.1:g.138130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376752.9:c.447C>T | ENSP00000365943.4:p.Asp149= | |
| ENST00000674117.1:c.447C>T MANE Select | ENSP00000500971.1:p.Asp149= | |
| ENST00000376752.8:c.447C>T | ENSP00000365943.4:p.Asp149= | |
| ENST00000376767.7:c.447C>T | ENSP00000365958.3:p.Asp149= | |
| ENST00000545128.5:c.447C>T | ENSP00000446280.1:p.Asp149= | |
| NM_001190482.1:c.447C>T | NP_001177411.1:p.Asp149= | |
| NM_006200.5:c.447C>T | NP_006191.2:p.Asp149= | |
| NR_120409.1:n.985C>T | ||
| XM_005252039.2:c.447C>T | XP_005252096.1:p.Asp149= | |
| XM_011518769.1:c.447C>T | XP_011517071.1:p.Asp149= | |
| XR_929806.1:n.1028C>T | ||
| XR_929807.1:n.1028C>T | ||
| XM_005252039.4:c.447C>T | XP_005252096.1:p.Asp149= | |
| XM_011518769.3:c.447C>T | XP_011517071.1:p.Asp149= | |
| XR_929806.2:n.983C>T | ||
| XR_929807.2:n.983C>T | ||
| NM_001372043.1:c.447C>T MANE Select | NP_001358972.1:p.Asp149= | |
| NM_006200.6:c.447C>T | NP_006191.2:p.Asp149= | |
| NR_120409.2:n.956C>T | ||
| NM_001190482.2:c.447C>T | NP_001177411.1:p.Asp149= |