Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837494G= , CM000685.2:g.154837494G= | GRCh38 |
| NC_000023.10:g.154065769G= , CM000685.1:g.154065769G= | GRCh37 |
| NC_000023.9:g.153718963G= | NCBI36 |
| NG_011403.1:g.190230C= | |
| NG_033065.1:g.2169C= | |
| NG_011403.2:g.190230C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.*103C= MANE Select | NP_000123.1:n.*103C= |
| ENST00000360256.9:c.*103C= MANE Select | ENSP00000353393.4:n.*103C= |
| NM_000132.3:c.*103C= | NP_000123.1:n.*103C= |
| NM_019863.2:c.*103C= | NP_063916.1:n.*103C= |
| NM_019863.3:c.*103C= | NP_063916.1:n.*103C= |
| ENST00000330287.10:c.*103C= | ENSP00000327895.6:n.*103C= |
| ENST00000360256.8:c.*103C= | ENSP00000353393.4:n.*103C= |
| ENST00000644698.1:c.*103C= | ENSP00000495706.1:n.*103C= |
| XM_011531126.1:c.*103C= | XP_011529428.1:n.*103C= |