Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26402015C>T , CM000664.2:g.26402015C>T | GRCh38 |
| NC_000002.11:g.26624883C>T , CM000664.1:g.26624883C>T | GRCh37 |
| NC_000002.10:g.26478387C>T | NCBI36 |
| NG_042824.1:g.5104C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145038.5:c.26C>T MANE Select | NP_659475.2:p.Ala9Val |
| ENST00000288710.7:c.26C>T MANE Select | ENSP00000288710.2:p.Ala9Val |
| NM_145038.3:c.26C>T | NP_659475.2:p.Ala9Val |
| NM_145038.4:c.26C>T | NP_659475.2:p.Ala9Val |
| ENST00000288710.6:c.26C>T | ENSP00000288710.2:p.Ala9Val |
| ENST00000421869.5:c.26C>T | ENSP00000414375.1:p.Ala9Val |
| ENST00000649059.1:c.12C>T | |
| XM_005264637.3:c.-409C>T | XP_005264694.1:n.-409C>T |
| XM_017005271.1:c.-855C>T | XP_016860760.1:n.-855C>T |
| XM_024453218.1:c.-671C>T | XP_024308986.1:n.-671C>T |