Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100276649G>A , CM000676.2:g.100276649G>A | GRCh38 |
| NC_000014.8:g.100742986G>A , CM000676.1:g.100742986G>A | GRCh37 |
| NC_000014.7:g.99812739G>A | NCBI36 |
| NG_046908.1:g.42885G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.1062+1G>A MANE Select | NP_003394.1:n.1062+1G>A |
| ENST00000262238.10:c.1062+1G>A MANE Select | ENSP00000262238.4:n.1062+1G>A |
| NM_003403.4:c.1062+1G>A | NP_003394.1:n.1062+1G>A |
| ENST00000262238.8:c.1062+1G>A | ENSP00000262238.4:n.1062+1G>A |
| ENST00000554579.1:n.450+1G>A | |
| ENST00000554804.1:c.390-769G>A | |
| ENST00000623799.1:n.921G>A | |
| ENST00000651219.1:c.552+1G>A | ENSP00000498329.1:n.552+1G>A |
| ENST00000704024.1:n.1111+1G>A | |
| ENST00000704485.1:c.300+1G>A | ENSP00000515913.1:n.300+1G>A |