dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28848861A>T , CM000663.2:g.28848861A>T | GRCh38 |
| NC_000001.10:g.29175373A>T , CM000663.1:g.29175373A>T | GRCh37 |
| NC_000001.9:g.29047960A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234961.7:c.228-10093A>T MANE Select | ENSP00000234961.2:n.228-10093A>T | |
| ENST00000234961.6:c.228-10093A>T | ENSP00000234961.2:n.228-10093A>T | |
| ENST00000621425.1:c.228-10093A>T | ENSP00000477970.1:n.228-10093A>T | |
| NM_000911.3:c.228-10093A>T | NP_000902.3:n.228-10093A>T | |
| NM_000911.4:c.228-10093A>T MANE Select | NP_000902.3:n.228-10093A>T |