Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.107646780G>T , CM000667.2:g.107646780G>T | GRCh38 |
| NC_000005.9:g.106982481G>T , CM000667.1:g.106982481G>T | GRCh37 |
| NC_000005.8:g.107010380G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333274.11:c.125+23709C>A MANE Select | ENSP00000328777.6:n.125+23709C>A | |
| ENST00000333274.10:c.125+23709C>A | ENSP00000328777.6:n.125+23709C>A | |
| ENST00000504941.1:n.397+23709C>A | ||
| ENST00000509503.1:c.125+23709C>A | ENSP00000426989.1:n.125+23709C>A | |
| NM_001962.2:c.125+23709C>A | NP_001953.1:n.125+23709C>A | |
| XM_006714565.1:c.125+23709C>A | XP_006714628.1:n.125+23709C>A | |
| XM_006714565.3:c.125+23709C>A | XP_006714628.1:n.125+23709C>A | |
| NM_001962.3:c.125+23709C>A MANE Select | NP_001953.1:n.125+23709C>A |