dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132660753A>T , CM000667.2:g.132660753A>T | GRCh38 |
| NC_000005.9:g.131996445A>T , CM000667.1:g.131996445A>T | GRCh37 |
| NC_000005.8:g.132024344A>T | NCBI36 |
| NG_012090.1:g.7581A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304506.7:c.*471A>T MANE Select | ENSP00000304915.3:n.*471A>T | |
| NM_002188.2:c.*471A>T | NP_002179.2:n.*471A>T | |
| NM_001354991.1:c.*471A>T | NP_001341920.1:n.*471A>T | |
| NM_001354992.1:c.*471A>T | NP_001341921.1:n.*471A>T | |
| NM_001354993.1:c.*471A>T | NP_001341922.1:n.*471A>T | |
| NM_002188.3:c.*471A>T MANE Select | NP_002179.2:n.*471A>T | |
| NM_001354991.2:c.*471A>T | NP_001341920.1:n.*471A>T | |
| NM_001354992.2:c.*471A>T | NP_001341921.1:n.*471A>T | |
| NM_001354993.2:c.*471A>T | NP_001341922.1:n.*471A>T |