Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31373124G= , CM000663.2:g.31373124G= | GRCh38 |
| NC_000001.10:g.31845971G= , CM000663.1:g.31845971G= | GRCh37 |
| NC_000001.9:g.31618558G= | NCBI36 |
| NG_047049.1:g.5160C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482018.1:c.-27-83C= | ENSP00000473982.1:n.-27-83C= | |
| XM_011541007.1:c.-110C= | XP_011539309.1:n.-110C= | |
| NM_001320996.1:c.-110C= | NP_001307925.1:n.-110C= | |
| NM_004102.4:c.-110C= | NP_004093.1:n.-110C= | |
| XM_011541007.3:c.-110C= | XP_011539309.1:n.-110C= |