Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64615784T>C , CM000670.2:g.64615784T>C | GRCh38 |
| NC_000008.10:g.65528341T>C , CM000670.1:g.65528341T>C | GRCh37 |
| NC_000008.9:g.65690895T>C | NCBI36 |
| NG_008338.1:g.188008A>G | |
| NG_008338.2:g.188008A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004820.5:c.757A>G MANE Select | NP_004811.1:p.Lys253Glu |
| ENST00000310193.4:c.757A>G MANE Select | ENSP00000310721.3:p.Lys253Glu |
| NM_001324112.1:c.757A>G | NP_001311041.1:p.Lys253Glu |
| NM_001324112.2:c.757A>G | NP_001311041.1:p.Lys253Glu |
| NM_004820.3:c.757A>G | NP_004811.1:p.Lys253Glu |
| NM_004820.4:c.757A>G | NP_004811.1:p.Lys253Glu |
| ENST00000310193.3:c.757A>G | ENSP00000310721.3:p.Lys253Glu |
| ENST00000523954.1:n.31A>G | |
| XM_017014002.1:c.823A>G | XP_016869491.1:p.Lys275Glu |