Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.[88720174G>A;88727144G>A] , CM000678.2:g.[88720174G>A;88727144G>A] | GRCh38 |
| NC_000016.9:g.[88786582G>A;88793552G>A] , CM000678.1:g.[88786582G>A;88793552G>A] | GRCh37 |
| NC_000016.8:g.[87314083G>A;87321053G>A] | NCBI36 |
| NG_042229.1:g.[63077C>T;70047C>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.[3350C>T;6059C>T] MANE Select | ENSP00000301015.9:p.[Ser1117Leu;Ala2020Val] | |
| ENST00000301015.13:c.[3350C>T;6059C>T] | ENSP00000301015.9:p.[Ser1117Leu;Ala2020Val] | |
| NM_001142864.2:c.[3350C>T;6059C>T] | NP_001136336.2:p.[Ser1117Leu;Ala2020Val] | |
| NM_001142864.3:c.[3350C>T;6059C>T] | NP_001136336.2:p.[Ser1117Leu;Ala2020Val] | |
| NM_001142864.4:c.[3350C>T;6059C>T] MANE Select | NP_001136336.2:p.[Ser1117Leu;Ala2020Val] |