ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196306939T>A , CM000665.2:g.196306939T>A | GRCh38 |
| NC_000003.11:g.196033810T>A , CM000665.1:g.196033810T>A | GRCh37 |
| NC_000003.10:g.197518207T>A | NCBI36 |
| NG_054930.1:g.16356A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325318.10:c.317+4A>T MANE Select | ENSP00000324323.5:n.317+4A>T | |
| ENST00000325318.9:c.317+4A>T | ENSP00000324323.5:n.317+4A>T | |
| ENST00000426563.5:c.*183+4A>T | ENSP00000415835.1:n.*183+4A>T | |
| ENST00000431391.1:c.317+4A>T | ENSP00000405181.1:n.317+4A>T | |
| ENST00000446494.1:c.317+4A>T | ENSP00000410605.1:n.317+4A>T | |
| NM_152773.4:c.317+4A>T | NP_689986.2:n.317+4A>T | |
| NM_001351628.1:c.317+4A>T | NP_001338557.1:n.317+4A>T | |
| NM_152773.5:c.317+4A>T MANE Select | NP_689986.2:n.317+4A>T | |
| NM_001351628.2:c.317+4A>T | NP_001338557.1:n.317+4A>T |