Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833108A>C , CM000663.2:g.64833108A>C | GRCh38 |
| NC_000001.10:g.65298791A>C , CM000663.1:g.65298791A>C | GRCh37 |
| NC_000001.9:g.65071379A>C | NCBI36 |
| NG_023402.1:g.138397T>G | |
| NG_023402.2:g.239639T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001366165.2:c.*2123A>C MANE Select | NP_001353094.1:n.*2123A>C |
| ENST00000294428.8:c.*2123A>C MANE Select | ENSP00000294428.3:n.*2123A>C |
| NM_001366165.1:c.*2123A>C | NP_001353094.1:n.*2123A>C |
| NM_018211.3:c.*2123A>C | NP_060681.2:n.*2123A>C |
| NM_018211.4:c.*2123A>C | NP_060681.2:n.*2123A>C |
| ENST00000294428.7:c.*2123A>C | ENSP00000294428.3:n.*2123A>C |
| ENST00000371072.8:c.*2123A>C | ENSP00000360112.4:n.*2123A>C |
| XM_006710738.2:c.*2123A>C | XP_006710801.2:n.*2123A>C |
| XR_946693.3:n.4542A>C |