Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781288C= , CM000677.2:g.66781288C= | GRCh38 |
| NC_000015.9:g.67073626C= , CM000677.1:g.67073626C= | GRCh37 |
| NC_000015.8:g.64860680C= | NCBI36 |
| NG_012244.1:g.83953C= | |
| NG_012244.2:g.83953C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005585.5:c.1244C= MANE Select | NP_005576.3:p.Pro415= |
| ENST00000288840.10:c.1244C= MANE Select | ENSP00000288840.5:p.Pro415= |
| NM_005585.4:c.1244C= | NP_005576.3:p.Pro415= |
| NR_027654.1:n.2299C= | |
| NR_027654.2:n.2399C= | |
| ENST00000288840.9:c.1244C= | ENSP00000288840.5:p.Pro415= |
| ENST00000557916.5:c.1376C= | ENSP00000452955.1:n.1376C= |
| ENST00000559931.5:c.548C= | ENSP00000453446.1:n.548C= |
| XM_011521561.1:c.461C= | XP_011519863.1:p.Pro154= |
| XM_011521561.2:c.461C= | XP_011519863.1:p.Pro154= |
| XR_931825.1:n.2643C= |