Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957140C>T , CM000685.2:g.154957140C>T | GRCh38 |
| NC_000023.10:g.154185415C>T , CM000685.1:g.154185415C>T | GRCh37 |
| NC_000023.9:g.153838609C>T | NCBI36 |
| NG_011403.1:g.70584G>A | |
| NG_011403.2:g.70584G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1569G>A MANE Select | ENSP00000353393.4:p.Leu523= | |
| ENST00000647125.1:c.*1445G>A | ENSP00000496062.1:n.*1445G>A | |
| ENST00000360256.8:c.1569G>A | ENSP00000353393.4:p.Leu523= | |
| NM_000132.3:c.1569G>A | NP_000123.1:p.Leu523= | |
| XM_011531126.1:c.1464G>A | XP_011529428.1:p.Leu488= | |
| NM_000132.4:c.1569G>A MANE Select | NP_000123.1:p.Leu523= |