Linked Data
dbSNP Id:
rs1789693125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22825267A>T , CM000677.2:g.22825267A>T | GRCh38 |
| NC_000015.9:g.23047801T>A , CM000677.1:g.23047801T>A | GRCh37 |
| NC_000015.8:g.20599242T>A | NCBI36 |
| NG_009056.1:g.44043A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.*1028A>T MANE Select | ENSP00000337452.4:n.*1028A>T | |
| ENST00000337435.8:c.*1028A>T | ENSP00000337452.4:n.*1028A>T | |
| ENST00000437912.6:c.*1028A>T | ENSP00000393962.2:n.*1028A>T | |
| ENST00000559448.5:c.1990A>T | ||
| NM_001142275.1:c.*1028A>T | NP_001135747.1:n.*1028A>T | |
| NM_144599.4:c.*1028A>T | NP_653200.2:n.*1028A>T | |
| NM_144599.5:c.*1028A>T MANE Select | NP_653200.2:n.*1028A>T |