Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965505A>T , CM000670.2:g.37965505A>T | GRCh38 |
| NC_000008.10:g.37823023A>T , CM000670.1:g.37823023A>T | GRCh37 |
| NC_000008.9:g.37942180A>T | NCBI36 |
| NG_011936.1:g.6162T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.965T>A MANE Select | NP_000016.1:p.Leu322Gln |
| ENST00000345060.5:c.965T>A MANE Select | ENSP00000343782.3:p.Leu322Gln |
| NM_000025.2:c.965T>A | NP_000016.1:p.Leu322Gln |
| ENST00000345060.4:c.965T>A | ENSP00000343782.3:p.Leu322Gln |
| ENST00000520341.1:n.240T>A | |
| ENST00000520341.2:n.1093T>A | |
| ENST00000614635.1:c.965T>A | ENSP00000480325.1:p.Leu322Gln |
| ENST00000647937.1:c.449T>A | ENSP00000497740.1:p.Leu150Gln |