Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650654A= , CM000679.2:g.1650654A= | GRCh38 |
| NC_000017.10:g.1553948A= , CM000679.1:g.1553948A= | GRCh37 |
| NC_000017.9:g.1500698A= | NCBI36 |
| NG_009118.1:g.39229T= | |
| NG_033061.1:g.4445T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.*148T= | ENSP00000460849.2:n.*148T= | |
| ENST00000703537.1:c.2904T= | ||
| ENST00000304992.11:c.*148T= MANE Select | ENSP00000304350.6:n.*148T= | |
| ENST00000304992.10:c.*148T= | ENSP00000304350.6:n.*148T= | |
| ENST00000571958.1:c.355T= | ||
| ENST00000572621.5:c.*148T= | ENSP00000460348.1:n.*148T= | |
| NM_006445.3:c.*148T= | NP_006436.3:n.*148T= | |
| XM_024450537.1:c.*148T= | XP_024306305.1:n.*148T= | |
| NM_006445.4:c.*148T= MANE Select | NP_006436.3:n.*148T= |