Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.113387965T>A , CM000667.2:g.113387965T>A | GRCh38 |
| NC_000005.9:g.112723662T>A , CM000667.1:g.112723662T>A | GRCh37 |
| NC_000005.8:g.112751561T>A | NCBI36 |
| NG_012265.1:g.105866A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408903.7:c.171-2753A>T MANE Select | ENSP00000386227.3:n.171-2753A>T | |
| ENST00000408903.6:c.171-2753A>T | ENSP00000386227.3:n.171-2753A>T | |
| NM_001085377.1:c.171-2753A>T | NP_001078846.1:n.171-2753A>T | |
| XM_017009473.1:c.171-2753A>T | XP_016864962.1:n.171-2753A>T | |
| NM_001085377.2:c.171-2753A>T MANE Select | NP_001078846.2:n.171-2753A>T |