Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161039733G= , CM000663.2:g.161039733G= | GRCh38 |
| NC_000001.10:g.161009523G= , CM000663.1:g.161009523G= | GRCh37 |
| NC_000001.9:g.159276147G= | NCBI36 |
| NG_011612.1:g.11235C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368020.5:c.*187C= | ENSP00000356999.1:n.*187C= | |
| ENST00000368021.7:c.*187C= MANE Select | ENSP00000357000.3:n.*187C= | |
| ENST00000472217.1:n.659C= | ||
| NM_001276373.1:c.*187C= | NP_001263302.1:n.*187C= | |
| NM_007122.4:c.*187C= | NP_009053.1:n.*187C= | |
| NM_207005.2:c.*187C= | NP_996888.1:n.*187C= | |
| NM_007122.5:c.*187C= MANE Select | NP_009053.1:n.*187C= | |
| NM_001276373.2:c.*187C= | NP_001263302.1:n.*187C= | |
| NM_207005.3:c.*187C= | NP_996888.1:n.*187C= |