dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102959760A>T , CM000674.2:g.102959760A>T | GRCh38 |
| NC_000012.11:g.103353538A>T , CM000674.1:g.103353538A>T | GRCh37 |
| NC_000012.10:g.101877668A>T | NCBI36 |
| NG_008950.1:g.7087A>T | |
| NG_008690.2:g.3651T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266744.4:c.*446A>T MANE Select | ENSP00000266744.3:n.*446A>T | |
| ENST00000266744.3:c.*446A>T | ENSP00000266744.3:n.*446A>T | |
| NM_004316.3:c.*446A>T | NP_004307.2:n.*446A>T | |
| NM_004316.4:c.*446A>T MANE Select | NP_004307.2:n.*446A>T |