Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18018953T>C , CM000673.2:g.18018953T>C | GRCh38 |
| NC_000011.9:g.18040500T>C , CM000673.1:g.18040500T>C | GRCh37 |
| NC_000011.8:g.17997076T>C | NCBI36 |
| NG_011947.1:g.26836A>G | |
| NG_011947.2:g.26836A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682019.1:c.*2038A>G MANE Select | ENSP00000508368.1:n.*2038A>G | |
| ENST00000250018.6:c.*2038A>G | ENSP00000250018.2:n.*2038A>G | |
| NM_004179.3:c.*2038A>G MANE Select | NP_004170.1:n.*2038A>G |