Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65636574G>T , CM000663.2:g.65636574G>T | GRCh38 |
| NC_000001.10:g.66102257G>T , CM000663.1:g.66102257G>T | GRCh37 |
| NC_000001.9:g.65874845G>T | NCBI36 |
| NG_015831.2:g.221010G>T , LRG_283:g.221010G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349533.11:c.3057G>T MANE Select | ENSP00000330393.7:p.Pro1019= | |
| ENST00000349533.10:c.3057G>T | ENSP00000330393.6:p.Pro1019= | |
| ENST00000406510.7:c.258G>T | ENSP00000384025.3:p.Pro86= | |
| NM_002303.5:c.3057G>T , LRG_283t3:c.3057G>T | NP_002294.2:p.Pro1019= | |
| NM_002303.6:c.3057G>T MANE Select | NP_002294.2:p.Pro1019= |