Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130571T= , CM000676.2:g.50130571T= | GRCh38 |
| NC_000014.8:g.50597289T= , CM000676.1:g.50597289T= | GRCh37 |
| NC_000014.7:g.49667039T= | NCBI36 |
| NG_051073.1:g.106123A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3267A= MANE Select | ENSP00000216373.5:p.Pro1089= | |
| ENST00000216373.9:c.3267A= | ENSP00000216373.5:p.Pro1089= | |
| ENST00000543680.5:c.3168A= | ENSP00000445328.1:p.Pro1056= | |
| NM_006939.2:c.3267A= | NP_008870.2:p.Pro1089= | |
| XM_005268021.1:c.3087A= | XP_005268078.1:p.Pro1029= | |
| XM_011537103.1:c.3228A= | XP_011535405.1:p.Pro1076= | |
| NM_006939.3:c.3267A= | NP_008870.2:p.Pro1089= | |
| NM_006939.4:c.3267A= MANE Select | NP_008870.2:p.Pro1089= |