Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151056377A>T , CM000669.2:g.151056377A>T | GRCh38 |
| NC_000007.13:g.150753464A>T , CM000669.1:g.150753464A>T | GRCh37 |
| NC_000007.12:g.150384397A>T | NCBI36 |
| NG_042167.1:g.6589T>A | |
| NG_051947.1:g.3178A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485972.6:c.312+203T>A MANE Select | ENSP00000419782.1:n.312+203T>A | |
| ENST00000297518.4:c.312+203T>A | ENSP00000297518.4:n.312+203T>A | |
| ENST00000485972.5:c.312+203T>A | ENSP00000419782.1:n.312+203T>A | |
| ENST00000487703.5:n.676+203T>A | ||
| NM_001164410.2:c.312+203T>A | NP_001157882.1:n.312+203T>A | |
| NM_004935.3:c.312+203T>A | NP_004926.1:n.312+203T>A | |
| NM_004935.4:c.312+203T>A MANE Select | NP_004926.1:n.312+203T>A | |
| NM_001164410.3:c.312+203T>A | NP_001157882.1:n.312+203T>A |