Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154604338T>G , CM000666.2:g.154604338T>G | GRCh38 |
| NC_000004.11:g.155525490T>G , CM000666.1:g.155525490T>G | GRCh37 |
| NC_000004.10:g.155744940T>G | NCBI36 |
| NG_008834.1:g.13413A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021870.3:c.*496A>C MANE Select | NP_068656.2:n.*496A>C |
| ENST00000336098.8:c.*496A>C MANE Select | ENSP00000336829.3:n.*496A>C |
| NM_000509.4:c.*2A>C | NP_000500.2:n.*2A>C |
| NM_000509.5:c.*2A>C | NP_000500.2:n.*2A>C |
| NM_000509.6:c.*2A>C | NP_000500.2:n.*2A>C |
| ENST00000404648.7:c.*2A>C | ENSP00000384860.3:n.*2A>C |
| ENST00000405164.5:c.*2A>C | ENSP00000384101.1:n.*2A>C |
| ENST00000465913.1:n.1406A>C | |
| ENST00000492082.5:n.1858A>C |