Linked Data
ClinVar Variation Id:
716410
ClinVar RCV Id:
RCV000889055
dbSNP Id:
rs34515007
ExAC:
15:68378697 C / T
gnomAD v2:
15-68378697-C-T
gnomAD v3:
15-68086359-C-T
gnomAD v4:
15-68086359-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68086359C>T , CM000677.2:g.68086359C>T | GRCh38 |
| NC_000015.9:g.68378697C>T , CM000677.1:g.68378697C>T | GRCh37 |
| NC_000015.8:g.66165751C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249636.11:c.78C>T MANE Select | ENSP00000249636.6:p.Ala26= | |
| ENST00000249636.10:c.78C>T | ENSP00000249636.6:p.Ala26= | |
| ENST00000545237.1:c.84C>T | ENSP00000438574.1:p.Ala28= | |
| ENST00000562190.1:c.*168C>T | ENSP00000457698.1:n.*168C>T | |
| ENST00000564915.5:c.78C>T | ENSP00000456721.1:p.Ala26= | |
| NM_016166.1:c.78C>T | NP_057250.1:p.Ala26= | |
| XM_005254735.1:c.51C>T | XP_005254792.1:p.Ala17= | |
| XM_011522126.1:c.105C>T | XP_011520428.1:p.Ala35= | |
| XM_011522127.1:c.60C>T | XP_011520429.1:p.Ala20= | |
| XM_011522128.1:c.51C>T | XP_011520430.1:p.Ala17= | |
| NM_001320687.1:c.84C>T | NP_001307616.1:p.Ala28= | |
| NM_016166.2:c.78C>T | NP_057250.1:p.Ala26= | |
| XM_011522126.2:c.105C>T | XP_011520428.1:p.Ala35= | |
| XM_011522127.2:c.60C>T | XP_011520429.1:p.Ala20= | |
| XM_017022688.1:c.84C>T | XP_016878177.1:p.Ala28= | |
| XM_017022689.1:c.57C>T | XP_016878178.1:p.Ala19= | |
| XM_017022690.1:c.51C>T | XP_016878179.1:p.Ala17= | |
| XM_017022691.2:c.51C>T | XP_016878180.1:p.Ala17= | |
| XM_024450094.1:c.-521C>T | XP_024305862.1:n.-521C>T | |
| NM_016166.3:c.78C>T MANE Select | NP_057250.1:p.Ala26= |