Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394975C>A , CM000667.2:g.1394975C>A | GRCh38 |
| NC_000005.9:g.1395090C>A , CM000667.1:g.1395090C>A | GRCh37 |
| NC_000005.8:g.1448090C>A | NCBI36 |
| NG_015885.1:g.55454G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.1840-217G>T MANE Select | ENSP00000270349.9:n.1840-217G>T | |
| ENST00000270349.11:c.1840-217G>T | ENSP00000270349.9:n.1840-217G>T | |
| ENST00000512002.2:n.221-217G>T | ||
| NM_001044.4:c.1840-217G>T | NP_001035.1:n.1840-217G>T | |
| NM_001044.5:c.1840-217G>T MANE Select | NP_001035.1:n.1840-217G>T |