HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586837T>G , CM000679.2:g.41586837T>G | GRCh38 |
NC_000017.10:g.39743089T>G , CM000679.1:g.39743089T>G | GRCh37 |
NC_000017.9:g.36996615T>G | NCBI36 |
NG_008624.1:g.5059A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.-3A>C MANE Select | ENSP00000167586.6:n.-3A>C | |
ENST00000167586.6:c.-3A>C | ENSP00000167586.6:n.-3A>C | |
NM_000526.4:c.-3A>C | NP_000517.2:n.-3A>C | |
NM_000526.5:c.-3A>C MANE Select | NP_000517.3:n.-3A>C |