ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48892074T>A , CM000665.2:g.48892074T>A | GRCh38 |
| NC_000003.11:g.48929507T>A , CM000665.1:g.48929507T>A | GRCh37 |
| NC_000003.10:g.48904511T>A | NCBI36 |
| NG_008171.1:g.11823A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319017.5:c.106-2A>T MANE Select | ENSP00000326305.4:n.106-2A>T | |
| ENST00000319017.4:c.106-2A>T | ENSP00000326305.4:n.106-2A>T | |
| ENST00000430379.5:c.106-2A>T | ENSP00000388986.1:n.106-2A>T | |
| ENST00000440964.1:c.167-2A>T | ENSP00000388563.1:n.167-2A>T | |
| NM_000387.5:c.106-2A>T | NP_000378.1:n.106-2A>T | |
| XM_006713327.1:c.106-2A>T | XP_006713390.1:n.106-2A>T | |
| NM_000387.6:c.106-2A>T MANE Select | NP_000378.1:n.106-2A>T |