dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33087030A>T , CM000668.2:g.33087030A>T | GRCh38 |
| NC_000006.11:g.33054807A>T , CM000668.1:g.33054807A>T | GRCh37 |
| NC_000006.10:g.33162785A>T | NCBI36 |
| NG_033242.1:g.16105A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.*496A>T MANE Select | ENSP00000408146.2:n.*496A>T | |
| ENST00000416804.1:c.1190A>T | ||
| ENST00000418931.6:c.*496A>T | ENSP00000408146.2:n.*496A>T | |
| NM_002121.5:c.*496A>T | NP_002112.3:n.*496A>T | |
| NM_002121.6:c.*496A>T MANE Select | NP_002112.3:n.*496A>T |