dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48900594T>A , CM000677.2:g.48900594T>A | GRCh38 |
| NC_000015.9:g.49192791T>A , CM000677.1:g.49192791T>A | GRCh37 |
| NC_000015.8:g.46980083T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332408.9:c.657-9783A>T MANE Select | ENSP00000329668.4:n.657-9783A>T | |
| ENST00000332408.8:c.657-9783A>T | ENSP00000329668.4:n.657-9783A>T | |
| NM_203349.3:c.657-9783A>T | NP_976224.3:n.657-9783A>T | |
| XM_005254375.2:c.108-9783A>T | XP_005254432.1:n.108-9783A>T | |
| XM_011521552.1:c.69-9783A>T | XP_011519854.1:n.69-9783A>T | |
| XM_005254375.3:c.108-9783A>T | XP_005254432.1:n.108-9783A>T | |
| NM_203349.4:c.657-9783A>T MANE Select | NP_976224.3:n.657-9783A>T |