Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48474923C= , CM000675.2:g.48474923C= | GRCh38 |
| NC_000013.10:g.49049059C= , CM000675.1:g.49049059C= | GRCh37 |
| NC_000013.9:g.47947060C= | NCBI36 |
| NG_009009.1:g.176177C= , LRG_517:g.176177C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2520+1533C= MANE Select | NP_000312.2:n.2520+1533C= |
| ENST00000267163.6:c.2520+1533C= MANE Select | ENSP00000267163.4:n.2520+1533C= |
| NM_000321.2:c.2520+1533C= , LRG_517t1:c.2520+1533C= | NP_000312.2:n.2520+1533C= |
| ENST00000267163.4:c.2520+1533C= | ENSP00000267163.4:n.2520+1533C= |
| ENST00000643064.1:c.194+93480C= | |
| ENST00000650461.1:c.2520+1533C= | ENSP00000497193.1:n.2520+1533C= |
| XM_011535171.1:c.2259+1533C= | XP_011533473.1:n.2259+1533C= |
| XM_011535171.2:c.2259+1533C= | XP_011533473.1:n.2259+1533C= |