Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259909C= , CM000667.2:g.151259909C= | GRCh38 |
| NC_000005.9:g.150639470C= , CM000667.1:g.150639470C= | GRCh37 |
| NC_000005.8:g.150619663C= | NCBI36 |
| NG_009059.1:g.11858C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.236C= MANE Select | ENSP00000349687.3:p.Pro79= | |
| ENST00000357164.3:c.236C= | ENSP00000349687.3:p.Pro79= | |
| ENST00000523004.1:c.111C= | ||
| ENST00000523466.5:c.281C= | ENSP00000429100.1:p.Pro94= | |
| NM_000405.4:c.236C= | NP_000396.2:p.Pro79= | |
| NM_001167607.1:c.236C= | NP_001161079.1:p.Pro79= | |
| NM_000405.5:c.236C= MANE Select | NP_000396.2:p.Pro79= | |
| NM_001167607.2:c.236C= | NP_001161079.1:p.Pro79= | |
| NM_001167607.3:c.236C= | NP_001161079.1:p.Pro79= |