dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49521195A>T , CM000668.2:g.49521195A>T | GRCh38 |
| NC_000006.11:g.49488908A>T , CM000668.1:g.49488908A>T | GRCh37 |
| NC_000006.10:g.49596867A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371197.9:c.314-450A>T MANE Select | ENSP00000360240.4:n.314-450A>T | |
| ENST00000371197.8:c.314-450A>T | ENSP00000360240.4:n.314-450A>T | |
| ENST00000545705.1:c.314-450A>T | ENSP00000440029.1:n.314-450A>T | |
| NM_001010904.1:c.314-450A>T | NP_001010904.1:n.314-450A>T | |
| XM_011514599.1:c.314-450A>T | XP_011512901.1:n.314-450A>T | |
| NM_001010904.2:c.314-450A>T MANE Select | NP_001010904.1:n.314-450A>T |