Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132674018C= , CM000667.2:g.132674018C= | GRCh38 |
| NC_000005.9:g.132009710C= , CM000667.1:g.132009710C= | GRCh37 |
| NC_000005.8:g.132037609C= | NCBI36 |
| NG_023252.1:g.5338C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000589.4:c.-33C= MANE Select | NP_000580.1:n.-33C= |
| ENST00000231449.7:c.-33C= MANE Select | ENSP00000231449.2:n.-33C= |
| NM_000589.3:c.-33C= | NP_000580.1:n.-33C= |
| NM_001354990.1:c.-33C= | NP_001341919.1:n.-33C= |
| NM_001354990.2:c.-33C= | NP_001341919.1:n.-33C= |
| NM_172348.2:c.-33C= | NP_758858.1:n.-33C= |
| NM_172348.3:c.-33C= | NP_758858.1:n.-33C= |
| ENST00000231449.6:c.-33C= | ENSP00000231449.2:n.-33C= |
| ENST00000622422.1:c.-33C= | ENSP00000480581.1:n.-33C= |