Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10630282A>G , CM000679.2:g.10630282A>G | GRCh38 |
| NC_000017.10:g.10533599A>G , CM000679.1:g.10533599A>G | GRCh37 |
| NC_000017.9:g.10474324A>G | NCBI36 |
| NG_011537.1:g.32017T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002470.4:c.5457+6T>C MANE Select | NP_002461.2:n.5457+6T>C |
| ENST00000583535.6:c.5457+6T>C MANE Select | ENSP00000464317.1:n.5457+6T>C |
| NM_002470.3:c.5457+6T>C | NP_002461.2:n.5457+6T>C |
| ENST00000583535.5:c.5457+6T>C | ENSP00000464317.1:n.5457+6T>C |
| XM_011523870.1:c.5457+6T>C | XP_011522172.1:n.5457+6T>C |
| XM_011523870.3:c.5457+6T>C | XP_011522172.1:n.5457+6T>C |
| XM_011523871.1:c.5457+6T>C | XP_011522173.1:n.5457+6T>C |
| XM_011523871.2:c.5457+6T>C | XP_011522173.1:n.5457+6T>C |