Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6076907T>G , CM000682.2:g.6076907T>G | GRCh38 |
| NC_000020.10:g.6057554T>G , CM000682.1:g.6057554T>G | GRCh37 |
| NC_000020.9:g.6005554T>G | NCBI36 |
| NG_016213.1:g.51638A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.*266A>C MANE Select | NP_060141.3:n.*266A>C |
| ENST00000217289.9:c.*266A>C MANE Select | ENSP00000217289.4:n.*266A>C |
| NM_017671.4:c.*266A>C | NP_060141.3:n.*266A>C |
| ENST00000217289.8:c.*266A>C | ENSP00000217289.4:n.*266A>C |
| ENST00000478194.1:n.1260A>C | |
| ENST00000536936.1:c.*266A>C | ENSP00000441063.1:n.*266A>C |
| ENST00000699095.1:c.*266A>C | ENSP00000514127.1:n.*266A>C |
| XM_024451935.1:c.*266A>C | XP_024307703.1:n.*266A>C |