Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26278252C= , CM000672.2:g.26278252C= | GRCh38 |
| NC_000010.10:g.26567181C= , CM000672.1:g.26567181C= | GRCh37 |
| NC_000010.9:g.26607187C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001134366.2:c.1158-2757C= MANE Select | NP_001127838.1:n.1158-2757C= |
| ENST00000376261.8:c.1158-2757C= MANE Select | ENSP00000365437.3:n.1158-2757C= |
| NM_000818.2:c.1158-2757C= | NP_000809.1:n.1158-2757C= |
| NM_000818.3:c.1158-2757C= | NP_000809.1:n.1158-2757C= |
| NM_001134366.1:c.1158-2757C= | NP_001127838.1:n.1158-2757C= |
| ENST00000259271.7:c.1158-2757C= | ENSP00000259271.3:n.1158-2757C= |
| ENST00000376261.7:c.1158-2757C= | ENSP00000365437.3:n.1158-2757C= |
| ENST00000648567.1:c.816-2757C= | ENSP00000498009.1:n.816-2757C= |