Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928850C>A , CM000684.2:g.43928850C>A | GRCh38 |
| NC_000022.10:g.44324730C>A , CM000684.1:g.44324730C>A | GRCh37 |
| NC_000022.9:g.42656063C>A | NCBI36 |
| NG_008631.1:g.10112C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.447C>A MANE Select | ENSP00000216180.3:p.Pro149= | |
| ENST00000216180.7:c.447C>A | ENSP00000216180.3:p.Pro149= | |
| ENST00000406117.6:c.*79C>A | ENSP00000384668.2:n.*79C>A | |
| ENST00000423180.2:c.435C>A | ENSP00000397987.2:p.Pro145= | |
| ENST00000478713.1:n.481C>A | ||
| NM_025225.2:c.447C>A | NP_079501.2:p.Pro149= | |
| NM_025225.3:c.447C>A MANE Select | NP_079501.2:p.Pro149= |