Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659491C= , CM000685.2:g.136659491C= | GRCh38 |
| NC_000023.10:g.135741650C= , CM000685.1:g.135741650C= | GRCh37 |
| NC_000023.9:g.135569316C= | NCBI36 |
| NG_007280.1:g.16315C= , LRG_141:g.16315C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*480C= | ENSP00000512122.1:n.*480C= | |
| ENST00000695725.1:c.*417C= | ENSP00000512123.1:n.*417C= | |
| ENST00000695726.1:n.2830C= | ||
| ENST00000695729.1:n.3665C= | ||
| ENST00000370629.7:c.*76C= MANE Select | ENSP00000359663.2:n.*76C= | |
| ENST00000370628.2:c.*76C= | ENSP00000359662.2:n.*76C= | |
| ENST00000370629.6:c.*76C= | ENSP00000359663.2:n.*76C= | |
| NM_000074.2:c.*76C= , LRG_141t1:c.*76C= | NP_000065.1:n.*76C= | |
| NM_000074.3:c.*76C= MANE Select | NP_000065.1:n.*76C= |