Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88727144G>T , CM000678.2:g.88727144G>T | GRCh38 |
| NC_000016.9:g.88793552G>T , CM000678.1:g.88793552G>T | GRCh37 |
| NC_000016.8:g.87321053G>T | NCBI36 |
| NG_042229.1:g.63077C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.3350C>A MANE Select | NP_001136336.2:p.Ser1117Ter |
| ENST00000301015.14:c.3350C>A MANE Select | ENSP00000301015.9:p.Ser1117Ter |
| NM_001142864.2:c.3350C>A | NP_001136336.2:p.Ser1117Ter |
| NM_001142864.3:c.3350C>A | NP_001136336.2:p.Ser1117Ter |
| ENST00000301015.13:c.3350C>A | ENSP00000301015.9:p.Ser1117Ter |
| ENST00000491917.1:n.336C>A | |
| ENST00000491917.2:n.336C>A |