Linked Data
ClinVar Variation Id:
787960
ClinVar RCV Id:
RCV000970282
dbSNP Id:
rs34057488
ExAC:
15:68378856 C / T
gnomAD v2:
15-68378856-C-T
gnomAD v3:
15-68086518-C-T
gnomAD v4:
15-68086518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68086518C>T , CM000677.2:g.68086518C>T | GRCh38 |
| NC_000015.9:g.68378856C>T , CM000677.1:g.68378856C>T | GRCh37 |
| NC_000015.8:g.66165910C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249636.11:c.237C>T MANE Select | ENSP00000249636.6:p.Asn79= | |
| ENST00000249636.10:c.237C>T | ENSP00000249636.6:p.Asn79= | |
| ENST00000545237.1:c.243C>T | ENSP00000438574.1:p.Asn81= | |
| ENST00000562190.1:c.*327C>T | ENSP00000457698.1:n.*327C>T | |
| ENST00000564915.5:c.237C>T | ENSP00000456721.1:p.Asn79= | |
| NM_016166.1:c.237C>T | NP_057250.1:p.Asn79= | |
| XM_005254735.1:c.210C>T | XP_005254792.1:p.Asn70= | |
| XM_011522126.1:c.264C>T | XP_011520428.1:p.Asn88= | |
| XM_011522127.1:c.219C>T | XP_011520429.1:p.Asn73= | |
| XM_011522128.1:c.210C>T | XP_011520430.1:p.Asn70= | |
| NM_001320687.1:c.243C>T | NP_001307616.1:p.Asn81= | |
| NM_016166.2:c.237C>T | NP_057250.1:p.Asn79= | |
| XM_011522126.2:c.264C>T | XP_011520428.1:p.Asn88= | |
| XM_011522127.2:c.219C>T | XP_011520429.1:p.Asn73= | |
| XM_017022688.1:c.243C>T | XP_016878177.1:p.Asn81= | |
| XM_017022689.1:c.216C>T | XP_016878178.1:p.Asn72= | |
| XM_017022690.1:c.210C>T | XP_016878179.1:p.Asn70= | |
| XM_017022691.2:c.210C>T | XP_016878180.1:p.Asn70= | |
| XM_024450094.1:c.-362C>T | XP_024305862.1:n.-362C>T | |
| NM_016166.3:c.237C>T MANE Select | NP_057250.1:p.Asn79= |