Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050614A>T , CM000664.2:g.189050614A>T | GRCh38 |
| NC_000002.11:g.189915340A>T , CM000664.1:g.189915340A>T | GRCh37 |
| NC_000002.10:g.189623585A>T | NCBI36 |
| NG_011799.1:g.134266T>A | |
| NG_011799.2:g.134266T>A | |
| NG_011799.3:g.179688T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2994T>A MANE Select | ENSP00000364000.3:p.Pro998= | |
| ENST00000374866.7:c.2994T>A | ENSP00000364000.3:p.Pro998= | |
| ENST00000618828.1:c.1833T>A | ENSP00000482184.1:p.Pro611= | |
| NM_000393.3:c.2994T>A | NP_000384.2:p.Pro998= | |
| XM_011510573.1:c.2856T>A | XP_011508875.1:p.Pro952= | |
| NM_000393.4:c.2994T>A | NP_000384.2:p.Pro998= | |
| XM_011510573.3:c.2856T>A | XP_011508875.1:p.Pro952= | |
| NM_000393.5:c.2994T>A MANE Select | NP_000384.2:p.Pro998= |