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