Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36944032G= , CM000663.2:g.36944032G= | GRCh38 |
| NC_000001.10:g.37409633G= , CM000663.1:g.37409633G= | GRCh37 |
| NC_000001.9:g.37182220G= | NCBI36 |
| NG_011447.1:g.95212C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000831.4:c.116-52936C= MANE Select | NP_000822.2:n.116-52936C= |
| ENST00000373091.8:c.116-52936C= MANE Select | ENSP00000362183.3:n.116-52936C= |
| NM_000831.3:c.116-52936C= | NP_000822.2:n.116-52936C= |
| ENST00000373091.7:c.116-52936C= | ENSP00000362183.3:n.116-52936C= |
| ENST00000373093.4:c.116-52936C= | ENSP00000362185.4:n.116-52936C= |
| XM_011541294.1:c.116-52936C= | XP_011539596.1:n.116-52936C= |