Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46350538A>C , CM000664.2:g.46350538A>C | GRCh38 |
| NC_000002.11:g.46577677A>C , CM000664.1:g.46577677A>C | GRCh37 |
| NC_000002.10:g.46431181A>C | NCBI36 |
| NG_016000.1:g.58137A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.217+3475A>C MANE Select | ENSP00000263734.3:n.217+3475A>C | |
| ENST00000263734.4:c.217+3475A>C | ENSP00000263734.3:n.217+3475A>C | |
| ENST00000449347.5:c.217+3475A>C | ENSP00000406137.1:n.217+3475A>C | |
| ENST00000475822.1:n.408+3475A>C | ||
| NM_001430.4:c.217+3475A>C | NP_001421.2:n.217+3475A>C | |
| XM_011532698.1:c.256+3475A>C | XP_011531000.1:n.256+3475A>C | |
| XM_011532698.2:c.256+3475A>C | XP_011531000.1:n.256+3475A>C | |
| NM_001430.5:c.217+3475A>C MANE Select | NP_001421.2:n.217+3475A>C |