Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1444358A>G , CM000667.2:g.1444358A>G | GRCh38 |
| NC_000005.9:g.1444473A>G , CM000667.1:g.1444473A>G | GRCh37 |
| NC_000005.8:g.1497473A>G | NCBI36 |
| NG_015885.1:g.6071T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.-46+990T>C MANE Select | ENSP00000270349.9:n.-46+990T>C | |
| ENST00000270349.11:c.-46+990T>C | ENSP00000270349.9:n.-46+990T>C | |
| NM_001044.4:c.-46+990T>C | NP_001035.1:n.-46+990T>C | |
| NM_001044.5:c.-46+990T>C MANE Select | NP_001035.1:n.-46+990T>C |