Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965826A>C , CM000670.2:g.37965826A>C | GRCh38 |
| NC_000008.10:g.37823344A>C , CM000670.1:g.37823344A>C | GRCh37 |
| NC_000008.9:g.37942501A>C | NCBI36 |
| NG_011936.1:g.5841T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.644T>G MANE Select | NP_000016.1:p.Leu215Arg |
| ENST00000345060.5:c.644T>G MANE Select | ENSP00000343782.3:p.Leu215Arg |
| NM_000025.2:c.644T>G | NP_000016.1:p.Leu215Arg |
| ENST00000345060.4:c.644T>G | ENSP00000343782.3:p.Leu215Arg |
| ENST00000520341.2:n.772T>G | |
| ENST00000614635.1:c.644T>G | ENSP00000480325.1:p.Leu215Arg |
| ENST00000647937.1:c.128T>G | ENSP00000497740.1:p.Leu43Arg |