Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062865C>T , CM000664.2:g.189062865C>T | GRCh38 |
| NC_000002.11:g.189927591C>T , CM000664.1:g.189927591C>T | GRCh37 |
| NC_000002.10:g.189635836C>T | NCBI36 |
| NG_011799.1:g.122015G>A | |
| NG_011799.2:g.122015G>A | |
| NG_011799.3:g.167437G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.1977G>A MANE Select | NP_000384.2:p.Pro659= |
| ENST00000374866.9:c.1977G>A MANE Select | ENSP00000364000.3:p.Pro659= |
| NM_000393.3:c.1977G>A | NP_000384.2:p.Pro659= |
| NM_000393.4:c.1977G>A | NP_000384.2:p.Pro659= |
| ENST00000374866.7:c.1977G>A | ENSP00000364000.3:p.Pro659= |
| ENST00000470524.2:n.83G>A | |
| ENST00000618828.1:c.816G>A | ENSP00000482184.1:p.Pro272= |
| XM_011510573.1:c.1839G>A | XP_011508875.1:p.Pro613= |
| XM_011510573.3:c.1839G>A | XP_011508875.1:p.Pro613= |