Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31373131T= , CM000663.2:g.31373131T= | GRCh38 |
| NC_000001.10:g.31845978T= , CM000663.1:g.31845978T= | GRCh37 |
| NC_000001.9:g.31618565T= | NCBI36 |
| NG_047049.1:g.5153A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482018.1:c.-27-90A= | ENSP00000473982.1:n.-27-90A= | |
| XM_011541007.1:c.-117A= | XP_011539309.1:n.-117A= | |
| NM_001320996.1:c.-117A= | NP_001307925.1:n.-117A= | |
| NM_004102.4:c.-117A= | NP_004093.1:n.-117A= | |
| XM_011541007.3:c.-117A= | XP_011539309.1:n.-117A= |