Linked Data
ClinVar Variation Id:
385165
dbSNP Id:
rs377480457
ExAC:
15:80467390 C / T
gnomAD v2:
15-80467390-C-T
gnomAD v3:
15-80175048-C-T
gnomAD v4:
15-80175048-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80175048C>T , CM000677.2:g.80175048C>T | GRCh38 |
| NC_000015.9:g.80467390C>T , CM000677.1:g.80467390C>T | GRCh37 |
| NC_000015.8:g.78254445C>T | NCBI36 |
| NG_012833.1:g.27050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.959C>T | ||
| ENST00000561421.6:c.870C>T MANE Select | ENSP00000453347.2:p.Asp290= | |
| ENST00000646551.1:n.2484C>T | ||
| ENST00000261755.9:c.870C>T | ENSP00000261755.5:p.Asp290= | |
| ENST00000407106.5:c.870C>T | ENSP00000385080.1:p.Asp290= | |
| ENST00000539156.5:c.660C>T | ENSP00000454271.1:p.Asp220= | |
| ENST00000558627.1:n.798C>T | ||
| ENST00000561421.5:c.870C>T | ENSP00000453347.1:p.Asp290= | |
| NM_000137.2:c.870C>T | NP_000128.1:p.Asp290= | |
| XM_024449872.1:c.870C>T | XP_024305640.1:p.Asp290= | |
| NM_000137.4:c.870C>T MANE Select | NP_000128.1:p.Asp290= | |
| NM_001374377.1:c.870C>T | NP_001361306.1:p.Asp290= | |
| NM_001374380.1:c.870C>T | NP_001361309.1:p.Asp290= |