Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27416079T>C , CM000663.2:g.27416079T>C | GRCh38 |
| NC_000001.10:g.27742573T>C , CM000663.1:g.27742573T>C | GRCh37 |
| NC_000001.9:g.27615160T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006990.5:c.443A>G MANE Select | NP_008921.1:p.Lys148Arg |
| ENST00000618852.5:c.443A>G MANE Select | ENSP00000483313.1:p.Lys148Arg |
| NM_001201404.2:c.443A>G | NP_001188333.1:p.Lys148Arg |
| NM_001201404.3:c.443A>G | NP_001188333.1:p.Lys148Arg |
| NM_006990.4:c.443A>G | NP_008921.1:p.Lys148Arg |
| ENST00000536657.1:c.443A>G | ENSP00000439883.1:p.Lys148Arg |
| ENST00000618852.4:c.443A>G | ENSP00000483313.1:p.Lys148Arg |