Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575986G>A , CM000670.2:g.86575986G>A | GRCh38 |
| NC_000008.10:g.87588214G>A , CM000670.1:g.87588214G>A | GRCh37 |
| NC_000008.9:g.87657330G>A | NCBI36 |
| NG_016980.1:g.172690C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.2248C>T MANE Select | NP_061971.3:p.Pro750Ser |
| ENST00000320005.6:c.2248C>T MANE Select | ENSP00000316605.5:p.Pro750Ser |
| NM_019098.4:c.2248C>T | NP_061971.3:p.Pro750Ser |
| ENST00000320005.5:c.2248C>T | ENSP00000316605.5:p.Pro750Ser |
| ENST00000517327.5:c.276+2703C>T | ENSP00000428329.1:n.276+2703C>T |
| ENST00000681546.1:n.2068C>T | |
| ENST00000681746.1:c.*659C>T | ENSP00000505959.1:n.*659C>T |
| XM_011517138.1:c.1834C>T | XP_011515440.1:p.Pro612Ser |
| XM_011517138.2:c.1834C>T | XP_011515440.1:p.Pro612Ser |