Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26950101A>G , CM000663.2:g.26950101A>G | GRCh38 |
| NC_000001.10:g.27276592A>G , CM000663.1:g.27276592A>G | GRCh37 |
| NC_000001.9:g.27149179A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320567.6:c.1165T>C MANE Select | ENSP00000319179.5:p.Ser389Pro | |
| ENST00000320567.5:c.1165T>C | ENSP00000319179.5:p.Ser389Pro | |
| ENST00000616918.1:c.*423T>C | ENSP00000481107.1:n.*423T>C | |
| NM_152365.2:c.1165T>C | NP_689578.2:p.Ser389Pro | |
| XM_005245735.2:c.1165T>C | XP_005245792.1:p.Ser389Pro | |
| XM_011540622.1:c.1165T>C | XP_011538924.1:p.Ser389Pro | |
| XM_011540622.2:c.1165T>C | XP_011538924.1:p.Ser389Pro | |
| NM_152365.3:c.1165T>C MANE Select | NP_689578.2:p.Ser389Pro |