Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72888497C= , CM000664.2:g.72888497C= | GRCh38 |
| NC_000002.11:g.73115626C= , CM000664.1:g.73115626C= | GRCh37 |
| NC_000002.10:g.72969134C= | NCBI36 |
| NG_008234.1:g.6115C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.488C= MANE Select | ENSP00000234454.5:p.Pro163= | |
| ENST00000234454.5:c.488C= | ENSP00000234454.5:p.Pro163= | |
| ENST00000498749.1:n.433C= | ||
| NM_003124.4:c.488C= | NP_003115.1:p.Pro163= | |
| NM_003124.5:c.488C= MANE Select | NP_003115.1:p.Pro163= |