Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103479641A>T , CM000673.2:g.103479641A>T | GRCh38 |
| NC_000011.9:g.103350369A>T , CM000673.1:g.103350369A>T | GRCh37 |
| NC_000011.8:g.102855579A>T | NCBI36 |
| NG_016423.1:g.375210A>T | |
| NG_016423.2:g.375211A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001377.3:c.*388A>T MANE Select | NP_001368.2:n.*388A>T |
| ENST00000375735.7:c.*388A>T MANE Select | ENSP00000364887.2:n.*388A>T |
| NM_001080463.2:c.*388A>T MANE Plus Clinical | NP_001073932.1:n.*388A>T |
| ENST00000650373.2:c.*388A>T MANE Plus Clinical | ENSP00000497174.1:n.*388A>T |
| NM_001080463.1:c.*388A>T | NP_001073932.1:n.*388A>T |
| NM_001377.2:c.*388A>T | NP_001368.2:n.*388A>T |
| ENST00000375735.6:c.*388A>T | ENSP00000364887.2:n.*388A>T |
| ENST00000527252.1:n.864A>T |