Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115407G>A , CM000681.2:g.10115407G>A | GRCh38 |
| NC_000019.9:g.10226083G>A , CM000681.1:g.10226083G>A | GRCh37 |
| NC_000019.8:g.10087083G>A | NCBI36 |
| NG_047007.1:g.8887G>A | |
| NG_051197.1:g.9518C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253108.9:c.947+72C>T MANE Select | ENSP00000253108.3:n.947+72C>T | |
| ENST00000253108.8:c.947+72C>T | ENSP00000253108.3:n.947+72C>T | |
| ENST00000590158.1:n.966+72C>T | ||
| ENST00000593054.5:c.341+72C>T | ENSP00000467187.1:n.341+72C>T | |
| NM_003755.3:c.947+72C>T | NP_003746.2:n.947+72C>T | |
| NM_003755.4:c.947+72C>T | NP_003746.2:n.947+72C>T | |
| NM_003755.5:c.947+72C>T MANE Select | NP_003746.2:n.947+72C>T |