Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.107646859C>G , CM000667.2:g.107646859C>G | GRCh38 |
| NC_000005.9:g.106982560C>G , CM000667.1:g.106982560C>G | GRCh37 |
| NC_000005.8:g.107010459C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001962.3:c.125+23630G>C MANE Select | NP_001953.1:n.125+23630G>C |
| ENST00000333274.11:c.125+23630G>C MANE Select | ENSP00000328777.6:n.125+23630G>C |
| NM_001962.2:c.125+23630G>C | NP_001953.1:n.125+23630G>C |
| ENST00000333274.10:c.125+23630G>C | ENSP00000328777.6:n.125+23630G>C |
| ENST00000504941.1:n.397+23630G>C | |
| ENST00000509503.1:c.125+23630G>C | ENSP00000426989.1:n.125+23630G>C |
| XM_006714565.1:c.125+23630G>C | XP_006714628.1:n.125+23630G>C |
| XM_006714565.3:c.125+23630G>C | XP_006714628.1:n.125+23630G>C |