Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.120811383A>T , CM000670.2:g.120811383A>T | GRCh38 |
| NC_000008.10:g.121823623A>T , CM000670.1:g.121823623A>T | GRCh37 |
| NC_000008.9:g.121892804A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021021.4:c.461T>A MANE Select | NP_066301.1:p.Leu154Gln |
| ENST00000517992.2:c.461T>A MANE Select | ENSP00000431124.1:p.Leu154Gln |
| NM_021021.3:c.461T>A | NP_066301.1:p.Leu154Gln |
| ENST00000395601.7:c.461T>A | ENSP00000378965.3:p.Leu154Gln |
| ENST00000517992.1:c.461T>A | ENSP00000431124.1:p.Leu154Gln |
| ENST00000519177.5:n.181T>A | |
| ENST00000648490.1:c.461T>A | ENSP00000497707.1:p.Leu154Gln |
| XM_011517239.1:c.461T>A | XP_011515541.1:p.Leu154Gln |
| XM_011517239.2:c.461T>A | XP_011515541.1:p.Leu154Gln |