Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1443523A>C , CM000667.2:g.1443523A>C | GRCh38 |
| NC_000005.9:g.1443638A>C , CM000667.1:g.1443638A>C | GRCh37 |
| NC_000005.8:g.1496638A>C | NCBI36 |
| NG_015885.1:g.6906T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.-45-281T>G MANE Select | ENSP00000270349.9:n.-45-281T>G | |
| ENST00000270349.11:c.-45-281T>G | ENSP00000270349.9:n.-45-281T>G | |
| NM_001044.4:c.-45-281T>G | NP_001035.1:n.-45-281T>G | |
| NM_001044.5:c.-45-281T>G MANE Select | NP_001035.1:n.-45-281T>G |