Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46304320G>T , CM000664.2:g.46304320G>T | GRCh38 |
| NC_000002.11:g.46531459G>T , CM000664.1:g.46531459G>T | GRCh37 |
| NC_000002.10:g.46384963G>T | NCBI36 |
| NG_016000.1:g.11919G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.26+6383G>T MANE Select | NP_001421.2:n.26+6383G>T |
| ENST00000263734.5:c.26+6383G>T MANE Select | ENSP00000263734.3:n.26+6383G>T |
| NM_001430.4:c.26+6383G>T | NP_001421.2:n.26+6383G>T |
| ENST00000263734.4:c.26+6383G>T | ENSP00000263734.3:n.26+6383G>T |
| ENST00000449347.5:c.26+6383G>T | ENSP00000406137.1:n.26+6383G>T |
| ENST00000460015.1:n.432+10222G>T | |
| ENST00000467888.5:n.174+6383G>T | |
| XR_940055.1:n.2501+9773C>A |