Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23416995A= , CM000678.2:g.23416995A= | GRCh38 |
| NC_000016.9:g.23428316A= , CM000678.1:g.23428316A= | GRCh37 |
| NC_000016.8:g.23335817A= | NCBI36 |
| NG_021287.1:g.41197T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1264T= MANE Select | ENSP00000305442.5:p.Leu422= | |
| ENST00000307149.9:c.1264T= | ENSP00000305442.5:p.Leu422= | |
| ENST00000567821.1:n.299T= | ||
| NM_153603.3:c.1264T= | NP_705831.1:p.Leu422= | |
| XR_429680.1:n.1480T= | ||
| XM_017023870.1:c.1069T= | XP_016879359.1:p.Leu357= | |
| XR_002957852.1:n.1485T= | ||
| XR_429680.2:n.1485T= | ||
| NM_153603.4:c.1264T= MANE Select | NP_705831.1:p.Leu422= |