Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128954184G= , CM000669.2:g.128954184G= | GRCh38 |
| NC_000007.13:g.128594238G= , CM000669.1:g.128594238G= | GRCh37 |
| NC_000007.12:g.128381474G= | NCBI36 |
| NG_023428.1:g.105990C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265388.9:c.*1233C= | ENSP00000265388.5:n.*1233C= | |
| ENST00000627585.2:c.*1233C= | ENSP00000487231.1:n.*1233C= | |
| NM_001191028.2:c.*1233C= | NP_001177957.2:n.*1233C= | |
| NM_012470.3:c.*1233C= | NP_036602.1:n.*1233C= | |
| NR_034053.2:n.4569C= |