HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583199T>G , CM000679.2:g.41583199T>G | GRCh38 |
NC_000017.10:g.39739451T>G , CM000679.1:g.39739451T>G | GRCh37 |
NC_000017.9:g.36992977T>G | NCBI36 |
NG_008624.1:g.8697A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000167586.7:c.1274+36A>C MANE Select | ENSP00000167586.6:n.1274+36A>C | |
ENST00000167586.6:c.1274+36A>C | ENSP00000167586.6:n.1274+36A>C | |
ENST00000441550.2:n.221+36A>C | ||
NM_000526.4:c.1274+36A>C | NP_000517.2:n.1274+36A>C | |
NM_000526.5:c.1274+36A>C MANE Select | NP_000517.3:n.1274+36A>C |