Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098730C>A , CM000664.2:g.189098730C>A | GRCh38 |
| NC_000002.11:g.189963456C>A , CM000664.1:g.189963456C>A | GRCh37 |
| NC_000002.10:g.189671701C>A | NCBI36 |
| NG_011799.1:g.86150G>T | |
| NG_011799.2:g.86150G>T | |
| NG_011799.3:g.131572G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.399G>T MANE Select | ENSP00000364000.3:p.Pro133= | |
| ENST00000649966.1:c.261G>T | ENSP00000496785.1:p.Pro87= | |
| ENST00000374866.7:c.399G>T | ENSP00000364000.3:p.Pro133= | |
| ENST00000618828.1:c.-232G>T | ENSP00000482184.1:n.-232G>T | |
| NM_000393.3:c.399G>T | NP_000384.2:p.Pro133= | |
| XM_011510573.1:c.261G>T | XP_011508875.1:p.Pro87= | |
| NM_000393.4:c.399G>T | NP_000384.2:p.Pro133= | |
| XM_011510573.3:c.261G>T | XP_011508875.1:p.Pro87= | |
| NM_000393.5:c.399G>T MANE Select | NP_000384.2:p.Pro133= |