Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588599C= , CM000672.2:g.113588599C= | GRCh38 |
| NC_000010.10:g.115348358C= , CM000672.1:g.115348358C= | GRCh37 |
| NC_000010.9:g.115338348C= | NCBI36 |
| NG_008956.1:g.40581C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.*230C= MANE Select | ENSP00000277903.4:n.*230C= | |
| ENST00000351270.3:c.*230C= | ENSP00000277903.4:n.*230C= | |
| ENST00000542051.5:c.*230C= | ENSP00000443283.1:n.*230C= | |
| NM_001177660.1:c.*230C= | NP_001171131.1:n.*230C= | |
| NM_004132.3:c.*230C= | NP_004123.1:n.*230C= | |
| NM_001177660.2:c.*230C= | NP_001171131.1:n.*230C= | |
| NM_004132.4:c.*230C= | NP_004123.1:n.*230C= | |
| NM_004132.5:c.*230C= MANE Select | NP_004123.1:n.*230C= | |
| NM_001177660.3:c.*230C= | NP_001171131.1:n.*230C= |