Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137111618C>T , CM000667.2:g.137111618C>T | GRCh38 |
| NC_000005.9:g.136447307C>T , CM000667.1:g.136447307C>T | GRCh37 |
| NC_000005.8:g.136475206C>T | NCBI36 |
| NG_034127.1:g.392712G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394945.6:c.474+817G>A MANE Select | ENSP00000378401.1:n.474+817G>A | |
| ENST00000282223.11:c.288+817G>A | ENSP00000282223.9:n.288+817G>A | |
| ENST00000394945.5:c.474+817G>A | ENSP00000378401.1:n.474+817G>A | |
| ENST00000510689.5:c.39+817G>A | ENSP00000421677.1:n.39+817G>A | |
| ENST00000635347.1:n.447+817G>A | ||
| NM_004598.3:c.474+817G>A | NP_004589.1:n.474+817G>A | |
| NM_004598.4:c.474+817G>A MANE Select | NP_004589.1:n.474+817G>A |