Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189036653G>A , CM000664.2:g.189036653G>A | GRCh38 |
| NC_000002.11:g.189901379G>A , CM000664.1:g.189901379G>A | GRCh37 |
| NC_000002.10:g.189609624G>A | NCBI36 |
| NG_011799.1:g.148227C>T | |
| NG_011799.2:g.148227C>T | |
| NG_011799.3:g.193649C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.4076C>T MANE Select | NP_000384.2:p.Pro1359Leu |
| ENST00000374866.9:c.4076C>T MANE Select | ENSP00000364000.3:p.Pro1359Leu |
| NM_000393.3:c.4076C>T | NP_000384.2:p.Pro1359Leu |
| NM_000393.4:c.4076C>T | NP_000384.2:p.Pro1359Leu |
| ENST00000374866.7:c.4076C>T | ENSP00000364000.3:p.Pro1359Leu |
| ENST00000618828.1:c.2915C>T | ENSP00000482184.1:p.Pro972Leu |
| XM_011510573.1:c.3938C>T | XP_011508875.1:p.Pro1313Leu |
| XM_011510573.3:c.3938C>T | XP_011508875.1:p.Pro1313Leu |