Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18280896G>A , CM000681.2:g.18280896G>A | GRCh38 |
| NC_000019.9:g.18391706G>A , CM000681.1:g.18391706G>A | GRCh37 |
| NC_000019.8:g.18252706G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005354.6:c.589C>T MANE Select | NP_005345.3:p.Leu197= |
| ENST00000252818.5:c.589C>T MANE Select | ENSP00000252818.3:p.Leu197= |
| NM_001286968.1:c.460C>T | NP_001273897.1:p.Leu154= |
| NM_001286968.2:c.460C>T | NP_001273897.1:p.Leu154= |
| NM_005354.5:c.589C>T | NP_005345.3:p.Leu197= |
| ENST00000252818.4:c.589C>T | ENSP00000252818.3:p.Leu197= |
| ENST00000600972.1:c.34C>T | ENSP00000475153.2:p.Leu12= |