Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993044G= , CM000685.2:g.154993044G= | GRCh38 |
| NC_000023.10:g.154221319G= , CM000685.1:g.154221319G= | GRCh37 |
| NC_000023.9:g.153874513G= | NCBI36 |
| NG_011403.1:g.34680C= | |
| NG_011403.2:g.34680C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.493C= MANE Select | NP_000123.1:p.Pro165= |
| ENST00000360256.9:c.493C= MANE Select | ENSP00000353393.4:p.Pro165= |
| NM_000132.3:c.493C= | NP_000123.1:p.Pro165= |
| ENST00000360256.8:c.493C= | ENSP00000353393.4:p.Pro165= |
| ENST00000423959.5:c.388C= | ENSP00000409446.1:p.Pro130= |
| ENST00000453950.1:c.475C= | ENSP00000389153.1:p.Pro159= |
| ENST00000647125.1:c.*279C= | ENSP00000496062.1:n.*279C= |
| XM_011531126.1:c.388C= | XP_011529428.1:p.Pro130= |