Linked Data
ClinVar Variation Id:
2989895
ClinVar RCV Id:
RCV003842526
dbSNP Id:
rs767799856
ExAC:
18:47101932 C / T
gnomAD v2:
18-47101932-C-T
gnomAD v3:
18-49575562-C-T
gnomAD v4:
18-49575562-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49575562C>T , CM000680.2:g.49575562C>T | GRCh38 |
| NC_000018.9:g.47101932C>T , CM000680.1:g.47101932C>T | GRCh37 |
| NC_000018.8:g.45355930C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.765C>T MANE Select | ENSP00000261292.4:p.Asn255= | |
| ENST00000261292.8:c.765C>T | ENSP00000261292.4:p.Asn255= | |
| ENST00000427224.6:c.572-5853C>T | ENSP00000387978.2:n.572-5853C>T | |
| ENST00000577628.5:c.873C>T | ENSP00000463835.1:p.Asn291= | |
| ENST00000580036.5:c.765C>T | ENSP00000462420.1:p.Asn255= | |
| NM_001308006.1:c.572-5853C>T | NP_001294935.1:n.572-5853C>T | |
| NM_006033.2:c.765C>T | NP_006024.1:p.Asn255= | |
| NM_006033.3:c.765C>T | NP_006024.1:p.Asn255= | |
| XM_005258390.1:c.873C>T | XP_005258447.1:p.Asn291= | |
| XM_011526265.1:c.680-5853C>T | XP_011524567.1:n.680-5853C>T | |
| XM_011526267.1:c.525C>T | XP_011524569.1:p.Asn175= | |
| XM_011526265.3:c.680-5853C>T | XP_011524567.1:n.680-5853C>T | |
| XM_017026095.1:c.174C>T | XP_016881584.1:p.Asn58= | |
| NM_006033.4:c.765C>T MANE Select | NP_006024.1:p.Asn255= | |
| NM_001308006.2:c.572-5853C>T | NP_001294935.1:n.572-5853C>T |