Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1438239A>G , CM000667.2:g.1438239A>G | GRCh38 |
| NC_000005.9:g.1438354A>G , CM000667.1:g.1438354A>G | GRCh37 |
| NC_000005.8:g.1491354A>G | NCBI36 |
| NG_015885.1:g.12190T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.418+3120T>C MANE Select | NP_001035.1:n.418+3120T>C |
| ENST00000270349.12:c.418+3120T>C MANE Select | ENSP00000270349.9:n.418+3120T>C |
| NM_001044.4:c.418+3120T>C | NP_001035.1:n.418+3120T>C |
| ENST00000270349.11:c.418+3120T>C | ENSP00000270349.9:n.418+3120T>C |