Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6151813C>A , CM000668.2:g.6151813C>A | GRCh38 |
| NC_000006.11:g.6152046C>A , CM000668.1:g.6152046C>A | GRCh37 |
| NC_000006.10:g.6097045C>A | NCBI36 |
| NG_008107.1:g.173879G>T , LRG_549:g.173879G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000129.4:c.2045G>T MANE Select | NP_000120.2:p.Arg682Leu |
| ENST00000264870.8:c.2045G>T MANE Select | ENSP00000264870.3:p.Arg682Leu |
| NM_000129.3:c.2045G>T , LRG_549t1:c.2045G>T | NP_000120.2:p.Arg682Leu |
| ENST00000264870.7:c.2045G>T | ENSP00000264870.3:p.Arg682Leu |
| XM_006715010.2:c.2045G>T | XP_006715073.1:p.Arg682Leu |
| XM_011514342.1:c.2207G>T | XP_011512644.1:p.Arg736Leu |