Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272806G= , CM000676.2:g.91272806G= | GRCh38 |
| NC_000014.8:g.91739150G= , CM000676.1:g.91739150G= | GRCh37 |
| NC_000014.7:g.90808903G= | NCBI36 |
| NG_033118.1:g.150039C= | |
| NG_033118.2:g.150039C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5906C= MANE Select | ENSP00000374507.6:p.Pro1969= | |
| ENST00000331194.8:c.1340C= | ENSP00000330332.8:p.Pro447= | |
| ENST00000389857.10:c.5906C= | ENSP00000374507.6:p.Pro1969= | |
| ENST00000556726.5:c.2134C= | ||
| NM_001080414.3:c.5906C= | NP_001073883.2:p.Pro1969= | |
| XM_011536796.1:c.5798C= | XP_011535098.1:p.Pro1933= | |
| XM_011536796.2:c.5798C= | XP_011535098.1:p.Pro1933= | |
| XM_017021336.1:c.2987C= | XP_016876825.1:p.Pro996= | |
| NM_001080414.4:c.5906C= MANE Select | NP_001073883.2:p.Pro1969= |