Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650653T= , CM000679.2:g.1650653T= | GRCh38 |
| NC_000017.10:g.1553947T= , CM000679.1:g.1553947T= | GRCh37 |
| NC_000017.9:g.1500697T= | NCBI36 |
| NG_009118.1:g.39230A= | |
| NG_033061.1:g.4446A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.*149A= | ENSP00000460849.2:n.*149A= | |
| ENST00000304992.11:c.*149A= MANE Select | ENSP00000304350.6:n.*149A= | |
| ENST00000304992.10:c.*149A= | ENSP00000304350.6:n.*149A= | |
| ENST00000571958.1:c.356A= | ||
| ENST00000572621.5:c.*149A= | ENSP00000460348.1:n.*149A= | |
| NM_006445.3:c.*149A= | NP_006436.3:n.*149A= | |
| XM_024450537.1:c.*149A= | XP_024306305.1:n.*149A= | |
| NM_006445.4:c.*149A= MANE Select | NP_006436.3:n.*149A= |