Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781155C= , CM000677.2:g.66781155C= | GRCh38 |
| NC_000015.9:g.67073493C= , CM000677.1:g.67073493C= | GRCh37 |
| NC_000015.8:g.64860547C= | NCBI36 |
| NG_012244.1:g.83820C= | |
| NG_012244.2:g.83820C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1111C= MANE Select | ENSP00000288840.5:p.Leu371= | |
| ENST00000288840.9:c.1111C= | ENSP00000288840.5:p.Leu371= | |
| ENST00000557916.5:c.1243C= | ENSP00000452955.1:n.1243C= | |
| ENST00000559931.5:c.415C= | ENSP00000453446.1:n.415C= | |
| NM_005585.4:c.1111C= | NP_005576.3:p.Leu371= | |
| NR_027654.1:n.2166C= | ||
| XM_011521561.1:c.328C= | XP_011519863.1:p.Leu110= | |
| XR_931825.1:n.2510C= | ||
| XM_011521561.2:c.328C= | XP_011519863.1:p.Leu110= | |
| NM_005585.5:c.1111C= MANE Select | NP_005576.3:p.Leu371= | |
| NR_027654.2:n.2266C= |