Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983459C>T , CM000678.2:g.56983459C>T | GRCh38 |
| NC_000016.9:g.57017371C>T , CM000678.1:g.57017371C>T | GRCh37 |
| NC_000016.8:g.55574872C>T | NCBI36 |
| NG_008952.1:g.26537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.1407+48C>T MANE Select | ENSP00000200676.3:n.1407+48C>T | |
| ENST00000200676.7:c.1407+48C>T | ENSP00000200676.3:n.1407+48C>T | |
| ENST00000379780.6:c.1227+48C>T | ENSP00000369106.2:n.1227+48C>T | |
| ENST00000566128.1:c.1212+48C>T | ENSP00000456276.1:n.1212+48C>T | |
| NM_000078.2:c.1407+48C>T | NP_000069.2:n.1407+48C>T | |
| NM_001286085.1:c.1227+48C>T | NP_001273014.1:n.1227+48C>T | |
| NM_000078.3:c.1407+48C>T MANE Select | NP_000069.2:n.1407+48C>T | |
| NM_001286085.2:c.1227+48C>T | NP_001273014.1:n.1227+48C>T |