Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13883360T>G , CM000680.2:g.13883360T>G | GRCh38 |
| NC_000018.9:g.13883359T>G , CM000680.1:g.13883359T>G | GRCh37 |
| NC_000018.8:g.13873359T>G | NCBI36 |
| NG_011819.1:g.37177A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.*1265A>C MANE Select | ENSP00000333821.2:n.*1265A>C | |
| ENST00000327606.3:c.*1265A>C | ENSP00000333821.2:n.*1265A>C | |
| NM_000529.2:c.*1265A>C MANE Select | NP_000520.1:n.*1265A>C | |
| NM_001291911.1:c.*1265A>C | NP_001278840.1:n.*1265A>C | |
| XM_017025781.1:c.*1265A>C | XP_016881270.1:n.*1265A>C |