Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1433159C>A , CM000667.2:g.1433159C>A | GRCh38 |
| NC_000005.9:g.1433274C>A , CM000667.1:g.1433274C>A | GRCh37 |
| NC_000005.8:g.1486274C>A | NCBI36 |
| NG_015885.1:g.17270G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.419-461G>T MANE Select | ENSP00000270349.9:n.419-461G>T | |
| ENST00000270349.11:c.419-461G>T | ENSP00000270349.9:n.419-461G>T | |
| NM_001044.4:c.419-461G>T | NP_001035.1:n.419-461G>T | |
| NM_001044.5:c.419-461G>T MANE Select | NP_001035.1:n.419-461G>T |