Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65201874A>T , CM000677.2:g.65201874A>T | GRCh38 |
| NC_000015.9:g.65494212A>T , CM000677.1:g.65494212A>T | GRCh37 |
| NC_000015.8:g.63281265A>T | NCBI36 |
| NG_012214.1:g.14629T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003613.4:c.1184T>A MANE Select | NP_003604.4:p.Ile395Lys |
| ENST00000261883.6:c.1184T>A MANE Select | ENSP00000261883.4:p.Ile395Lys |
| NM_003613.3:c.1184T>A | NP_003604.3:p.Ile395Lys |
| ENST00000261883.5:c.1184T>A | ENSP00000261883.4:p.Ile395Lys |
| XM_017022678.2:c.1265T>A | XP_016878167.1:p.Ile422Lys |
| XM_017022679.1:c.1112T>A | XP_016878168.1:p.Ile371Lys |