Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54455457A>C , CM000685.2:g.54455457A>C | GRCh38 |
| NC_000023.10:g.54481890A>C , CM000685.1:g.54481890A>C | GRCh37 |
| NC_000023.9:g.54498615A>C | NCBI36 |
| NG_008054.1:g.45710T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004463.3:c.2006T>G MANE Select | NP_004454.2:p.Leu669Arg |
| ENST00000375135.4:c.2006T>G MANE Select | ENSP00000364277.3:p.Leu669Arg |
| NM_004463.2:c.2006T>G | NP_004454.2:p.Leu669Arg |
| ENST00000375135.3:c.2006T>G | ENSP00000364277.3:p.Leu669Arg |