Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.48361966A>G , CM000666.2:g.48361966A>G | GRCh38 |
| NC_000004.11:g.48363983A>G , CM000666.1:g.48363983A>G | GRCh37 |
| NC_000004.10:g.48058740A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264313.11:c.390-7883A>G MANE Select | ENSP00000264313.5:n.390-7883A>G | |
| ENST00000264313.10:c.390-7883A>G | ENSP00000264313.5:n.390-7883A>G | |
| NM_020846.1:c.390-7883A>G | NP_065897.1:n.390-7883A>G | |
| XM_005248121.1:c.390-7883A>G | XP_005248178.1:n.390-7883A>G | |
| XM_005248121.3:c.390-7883A>G | XP_005248178.1:n.390-7883A>G | |
| NM_020846.2:c.390-7883A>G MANE Select | NP_065897.1:n.390-7883A>G |