Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46297441C>T , CM000664.2:g.46297441C>T | GRCh38 |
| NC_000002.11:g.46524580C>T , CM000664.1:g.46524580C>T | GRCh37 |
| NC_000002.10:g.46378084C>T | NCBI36 |
| NG_016000.1:g.5040C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.-471C>T MANE Select | NP_001421.2:n.-471C>T |
| ENST00000263734.5:c.-471C>T MANE Select | ENSP00000263734.3:n.-471C>T |
| NM_001430.4:c.-471C>T | NP_001421.2:n.-471C>T |
| ENST00000263734.4:c.-471C>T | ENSP00000263734.3:n.-471C>T |
| ENST00000449347.5:c.-170-301C>T | ENSP00000406137.1:n.-170-301C>T |
| ENST00000460015.1:n.432+3343C>T | |
| XR_940055.1:n.2502-3294G>A |