Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431670A>C , CM000676.2:g.23431670A>C | GRCh38 |
| NC_000014.8:g.23900879A>C , CM000676.1:g.23900879A>C | GRCh37 |
| NC_000014.7:g.22970719A>C | NCBI36 |
| NG_007884.1:g.8992T>G , LRG_384:g.8992T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.647T>G MANE Select | ENSP00000347507.3:p.Leu216Arg | |
| ENST00000355349.3:c.647T>G | ENSP00000347507.3:p.Leu216Arg | |
| NM_000257.3:c.647T>G | NP_000248.2:p.Leu216Arg | |
| XR_245686.3:n.753T>G | ||
| XM_017021340.1:c.647T>G | XP_016876829.1:p.Leu216Arg | |
| NM_000257.4:c.647T>G MANE Select | NP_000248.2:p.Leu216Arg |