Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128186637C= , CM000667.2:g.128186637C= | GRCh38 |
| NC_000005.9:g.127522329C= , CM000667.1:g.127522329C= | GRCh37 |
| NC_000005.8:g.127550228C= | NCBI36 |
| NG_042286.1:g.107847C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262461.7:c.*6C= MANE Select | ENSP00000262461.2:n.*6C= | |
| ENST00000262461.6:c.*6C= | ENSP00000262461.2:n.*6C= | |
| ENST00000343225.4:c.*6C= | ENSP00000340878.4:n.*6C= | |
| ENST00000509205.5:c.*258C= | ENSP00000427109.1:n.*258C= | |
| NM_001046.2:c.*6C= | NP_001037.1:n.*6C= | |
| NM_001256461.1:c.*6C= | NP_001243390.1:n.*6C= | |
| NR_046207.1:n.3875C= | ||
| XM_017009771.1:c.*6C= | XP_016865260.1:n.*6C= | |
| XR_001742214.1:n.3869C= | ||
| NM_001046.3:c.*6C= MANE Select | NP_001037.1:n.*6C= | |
| NM_001256461.2:c.*6C= | NP_001243390.1:n.*6C= | |
| NR_046207.2:n.3900C= |