Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16972013A>T , CM000679.2:g.16972013A>T | GRCh38 |
| NC_000017.10:g.16875327A>T , CM000679.1:g.16875327A>T | GRCh37 |
| NC_000017.9:g.16816052A>T | NCBI36 |
| NG_007281.1:g.5076T>A , LRG_120:g.5076T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012452.3:c.61+2T>A MANE Select | NP_036584.1:n.61+2T>A |
| ENST00000261652.7:c.61+2T>A MANE Select | ENSP00000261652.2:n.61+2T>A |
| NM_012452.2:c.61+2T>A , LRG_120t1:c.61+2T>A | NP_036584.1:n.61+2T>A |
| ENST00000261652.6:c.61+2T>A | ENSP00000261652.2:n.61+2T>A |
| ENST00000579315.5:c.61+2T>A | ENSP00000464069.1:n.61+2T>A |
| ENST00000581616.2:n.64+2T>A | |
| ENST00000582931.5:n.103+2T>A | |
| ENST00000583789.1:c.61+2T>A | ENSP00000462952.1:n.61+2T>A |
| ENST00000584950.5:c.61+2T>A | ENSP00000463582.1:n.61+2T>A |