Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965598A>T , CM000670.2:g.37965598A>T | GRCh38 |
| NC_000008.10:g.37823116A>T , CM000670.1:g.37823116A>T | GRCh37 |
| NC_000008.9:g.37942273A>T | NCBI36 |
| NG_011936.1:g.6069T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.872T>A MANE Select | NP_000016.1:p.Leu291Gln |
| ENST00000345060.5:c.872T>A MANE Select | ENSP00000343782.3:p.Leu291Gln |
| NM_000025.2:c.872T>A | NP_000016.1:p.Leu291Gln |
| ENST00000345060.4:c.872T>A | ENSP00000343782.3:p.Leu291Gln |
| ENST00000520341.1:n.147T>A | |
| ENST00000520341.2:n.1000T>A | |
| ENST00000614635.1:c.872T>A | ENSP00000480325.1:p.Leu291Gln |
| ENST00000647937.1:c.356T>A | ENSP00000497740.1:p.Leu119Gln |