dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119941633G>T , CM000670.2:g.119941633G>T | GRCh38 |
| NC_000008.10:g.120953873G>T , CM000670.1:g.120953873G>T | GRCh37 |
| NC_000008.9:g.121023054G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286234.6:c.425+11695G>T MANE Select | ENSP00000286234.5:n.425+11695G>T | |
| ENST00000286234.5:c.425+11695G>T | ENSP00000286234.5:n.425+11695G>T | |
| ENST00000523492.5:c.123-23599G>T | ENSP00000430457.1:n.123-23599G>T | |
| NM_001283012.1:c.123-23599G>T | NP_001269941.1:n.123-23599G>T | |
| NM_022783.3:c.425+11695G>T | NP_073620.2:n.425+11695G>T | |
| NM_022783.4:c.425+11695G>T MANE Select | NP_073620.2:n.425+11695G>T | |
| NM_001283012.2:c.123-23599G>T | NP_001269941.1:n.123-23599G>T |