Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372394G= , CM000679.2:g.44372394G= | GRCh38 |
| NC_000017.10:g.42449762G= , CM000679.1:g.42449762G= | GRCh37 |
| NC_000017.9:g.39805288G= | NCBI36 |
| NG_008331.1:g.22112C= , LRG_479:g.22112C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3090C= MANE Select | ENSP00000262407.5:p.Pro1030= | |
| ENST00000648408.1:c.2404C= | ||
| ENST00000262407.5:c.3090C= | ENSP00000262407.5:p.Pro1030= | |
| ENST00000587295.5:c.283C= | ||
| ENST00000588098.1:c.67C= | ||
| NM_000419.3:c.3090C= , LRG_479t1:c.3090C= | NP_000410.2:p.Pro1030= | |
| XM_011524749.1:c.2988C= | XP_011523051.1:p.Pro996= | |
| XM_011524750.1:c.2973C= | XP_011523052.1:p.Pro991= | |
| NM_000419.4:c.3090C= | NP_000410.2:p.Pro1030= | |
| NM_000419.5:c.3090C= MANE Select | NP_000410.2:p.Pro1030= |