Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259869C= , CM000667.2:g.151259869C= | GRCh38 |
| NC_000005.9:g.150639430C= , CM000667.1:g.150639430C= | GRCh37 |
| NC_000005.8:g.150619623C= | NCBI36 |
| NG_009059.1:g.11818C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.196C= MANE Select | ENSP00000349687.3:p.Leu66= | |
| ENST00000357164.3:c.196C= | ENSP00000349687.3:p.Leu66= | |
| ENST00000523004.1:c.71C= | ||
| ENST00000523466.5:c.241C= | ENSP00000429100.1:p.Leu81= | |
| NM_000405.4:c.196C= | NP_000396.2:p.Leu66= | |
| NM_001167607.1:c.196C= | NP_001161079.1:p.Leu66= | |
| NM_000405.5:c.196C= MANE Select | NP_000396.2:p.Leu66= | |
| NM_001167607.2:c.196C= | NP_001161079.1:p.Leu66= | |
| NM_001167607.3:c.196C= | NP_001161079.1:p.Leu66= |