Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111118924T>C , CM000667.2:g.111118924T>C | GRCh38 |
| NC_000005.9:g.110454622T>C , CM000667.1:g.110454622T>C | GRCh37 |
| NC_000005.8:g.110482521T>C | NCBI36 |
| NG_008979.1:g.31753T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000513710.4:c.1797-89T>C MANE Select | ENSP00000424628.3:n.1797-89T>C | |
| ENST00000506538.6:c.1965-89T>C | ENSP00000423067.2:n.1965-89T>C | |
| ENST00000513710.3:c.1797-89T>C | ENSP00000424628.3:n.1797-89T>C | |
| ENST00000612402.4:c.1965-89T>C | ENSP00000479950.1:n.1965-89T>C | |
| NM_139281.2:c.1965-89T>C | NP_644810.1:n.1965-89T>C | |
| XM_011543163.1:c.1965-89T>C | XP_011541465.1:n.1965-89T>C | |
| NM_139281.3:c.1797-89T>C MANE Select | NP_644810.2:n.1797-89T>C |