Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44379790G>A , CM000679.2:g.44379790G>A | GRCh38 |
| NC_000017.10:g.42457158G>A , CM000679.1:g.42457158G>A | GRCh37 |
| NC_000017.9:g.39812684G>A | NCBI36 |
| NG_008331.1:g.14716C>T , LRG_479:g.14716C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.1777C>T MANE Select | ENSP00000262407.5:p.Leu593= | |
| ENST00000648408.1:c.1208C>T | ||
| ENST00000262407.5:c.1777C>T | ENSP00000262407.5:p.Leu593= | |
| ENST00000592462.5:n.572C>T | ||
| NM_000419.3:c.1777C>T , LRG_479t1:c.1777C>T | NP_000410.2:p.Leu593= | |
| XM_011524749.1:c.1777C>T | XP_011523051.1:p.Leu593= | |
| XM_011524750.1:c.1777C>T | XP_011523052.1:p.Leu593= | |
| NM_000419.4:c.1777C>T | NP_000410.2:p.Leu593= | |
| NM_000419.5:c.1777C>T MANE Select | NP_000410.2:p.Leu593= |