Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1415971C>T , CM000667.2:g.1415971C>T | GRCh38 |
| NC_000005.9:g.1416086C>T , CM000667.1:g.1416086C>T | GRCh37 |
| NC_000005.8:g.1469086C>T | NCBI36 |
| NG_015885.1:g.34458G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1031+127G>A MANE Select | ENSP00000270349.9:n.1031+127G>A | |
| ENST00000270349.11:c.1031+127G>A | ENSP00000270349.9:n.1031+127G>A | |
| ENST00000511750.1:n.481+127G>A | ||
| NM_001044.4:c.1031+127G>A | NP_001035.1:n.1031+127G>A | |
| NM_001044.5:c.1031+127G>A MANE Select | NP_001035.1:n.1031+127G>A |