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