dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.11040190A>T , CM000668.2:g.11040190A>T | GRCh38 |
| NC_000006.11:g.11040423A>T , CM000668.1:g.11040423A>T | GRCh37 |
| NC_000006.10:g.11148409A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354666.4:c.3+4038T>A MANE Select | ENSP00000346693.3:n.3+4038T>A | |
| ENST00000354666.3:c.3+4038T>A | ENSP00000346693.3:n.3+4038T>A | |
| NM_017770.3:c.3+4038T>A | NP_060240.3:n.3+4038T>A | |
| NM_017770.4:c.3+4038T>A MANE Select | NP_060240.3:n.3+4038T>A |