Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957023T= , CM000685.2:g.154957023T= | GRCh38 |
| NC_000023.10:g.154185298T= , CM000685.1:g.154185298T= | GRCh37 |
| NC_000023.9:g.153838492T= | NCBI36 |
| NG_011403.1:g.70701A= | |
| NG_011403.2:g.70701A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1686A= MANE Select | ENSP00000353393.4:p.Leu562= | |
| ENST00000647125.1:c.*1562A= | ENSP00000496062.1:n.*1562A= | |
| ENST00000360256.8:c.1686A= | ENSP00000353393.4:p.Leu562= | |
| NM_000132.3:c.1686A= | NP_000123.1:p.Leu562= | |
| XM_011531126.1:c.1581A= | XP_011529428.1:p.Leu527= | |
| NM_000132.4:c.1686A= MANE Select | NP_000123.1:p.Leu562= |