Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137111606G>A , CM000667.2:g.137111606G>A | GRCh38 |
| NC_000005.9:g.136447295G>A , CM000667.1:g.136447295G>A | GRCh37 |
| NC_000005.8:g.136475194G>A | NCBI36 |
| NG_034127.1:g.392724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394945.6:c.474+829C>T MANE Select | ENSP00000378401.1:n.474+829C>T | |
| ENST00000282223.11:c.288+829C>T | ENSP00000282223.9:n.288+829C>T | |
| ENST00000394945.5:c.474+829C>T | ENSP00000378401.1:n.474+829C>T | |
| ENST00000510689.5:c.39+829C>T | ENSP00000421677.1:n.39+829C>T | |
| ENST00000635347.1:n.447+829C>T | ||
| NM_004598.3:c.474+829C>T | NP_004589.1:n.474+829C>T | |
| NM_004598.4:c.474+829C>T MANE Select | NP_004589.1:n.474+829C>T |