Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106035268A= , CM000685.2:g.106035268A= | GRCh38 |
| NC_000023.10:g.105279259A= , CM000685.1:g.105279259A= | GRCh37 |
| NC_000023.9:g.105165915A= | NCBI36 |
| NG_021252.1:g.8460T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000354.6:c.740T= MANE Select | NP_000345.2:p.Leu247= |
| ENST00000372563.2:c.740T= MANE Select | ENSP00000361644.1:p.Leu247= |
| NM_000354.5:c.740T= | NP_000345.2:p.Leu247= |
| ENST00000327674.8:c.740T= | ENSP00000329374.4:p.Leu247= |
| ENST00000372563.1:c.740T= | ENSP00000361644.1:p.Leu247= |
| ENST00000487487.1:n.13T= | |
| XM_005262180.3:c.740T= | XP_005262237.1:p.Leu247= |
| XM_005262180.4:c.740T= | XP_005262237.1:p.Leu247= |
| XM_006724683.1:c.740T= | XP_006724746.1:p.Leu247= |
| XM_006724683.2:c.740T= | XP_006724746.1:p.Leu247= |