Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81207188A>C , CM000667.2:g.81207188A>C | GRCh38 |
| NC_000005.9:g.80503007A>C , CM000667.1:g.80503007A>C | GRCh37 |
| NC_000005.8:g.80538763A>C | NCBI36 |
| NG_030334.1:g.251500A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2968-58A>C MANE Select | ENSP00000265080.4:n.2968-58A>C | |
| ENST00000265080.8:c.2968-58A>C | ENSP00000265080.4:n.2968-58A>C | |
| ENST00000503795.1:c.2968-58A>C | ENSP00000421771.1:n.2968-58A>C | |
| NM_006909.2:c.2968-58A>C | NP_008840.1:n.2968-58A>C | |
| XM_017009682.2:c.2683-58A>C | XP_016865171.1:n.2683-58A>C | |
| XR_002956166.1:n.3084-58A>C | ||
| NM_006909.3:c.2968-58A>C MANE Select | NP_008840.1:n.2968-58A>C |