Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232935C>A , CM000667.2:g.55232935C>A | GRCh38 |
| NC_000005.9:g.54528763C>A , CM000667.1:g.54528763C>A | GRCh37 |
| NC_000005.8:g.54564520C>A | NCBI36 |
| NG_034201.1:g.5783G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+208G>T MANE Select | ENSP00000282572.4:n.381+208G>T | |
| ENST00000282572.4:c.381+208G>T | ENSP00000282572.4:n.381+208G>T | |
| ENST00000501463.2:c.*193G>T | ENSP00000422485.1:n.*193G>T | |
| NM_021147.4:c.381+208G>T | NP_066970.3:n.381+208G>T | |
| NR_125346.1:n.783G>T | ||
| NR_125347.1:n.580+203G>T | ||
| NR_125348.1:n.57G>T | ||
| NM_021147.5:c.381+208G>T MANE Select | NP_066970.3:n.381+208G>T | |
| NR_125346.2:n.674G>T | ||
| NR_125347.2:n.471+203G>T |