Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186673853T= , CM000663.2:g.186673853T= | GRCh38 |
| NC_000001.10:g.186642985T= , CM000663.1:g.186642985T= | GRCh37 |
| NC_000001.9:g.184909608T= | NCBI36 |
| NG_028206.2:g.11575A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.*500A= MANE Select | ENSP00000356438.5:n.*500A= | |
| ENST00000680451.1:c.*500A= | ENSP00000506242.1:n.*500A= | |
| ENST00000681605.1:c.*1987A= | ENSP00000504900.1:n.*1987A= | |
| ENST00000367468.9:c.*500A= | ENSP00000356438.5:n.*500A= | |
| ENST00000490885.6:n.2730A= | ||
| NM_000963.3:c.*500A= | NP_000954.1:n.*500A= | |
| NM_000963.4:c.*500A= MANE Select | NP_000954.1:n.*500A= |