Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6119594A>G , CM000682.2:g.6119594A>G | GRCh38 |
| NC_000020.10:g.6100241A>G , CM000682.1:g.6100241A>G | GRCh37 |
| NC_000020.9:g.6048241A>G | NCBI36 |
| NG_016213.1:g.8951T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.-18-22T>C MANE Select | NP_060141.3:n.-18-22T>C |
| ENST00000217289.9:c.-18-22T>C MANE Select | ENSP00000217289.4:n.-18-22T>C |
| NM_017671.4:c.-18-22T>C | NP_060141.3:n.-18-22T>C |
| ENST00000217289.8:c.-18-22T>C | ENSP00000217289.4:n.-18-22T>C |
| ENST00000378844.1:c.-18-22T>C | ENSP00000368121.1:n.-18-22T>C |
| ENST00000536936.1:c.-558-22T>C | ENSP00000441063.1:n.-558-22T>C |
| ENST00000699095.1:c.-40T>C | ENSP00000514127.1:n.-40T>C |
| ENST00000699096.1:n.442-19T>C | |
| XM_024451935.1:c.-21-19T>C | XP_024307703.1:n.-21-19T>C |