HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52488116A>G , CM000674.2:g.52488116A>G | GRCh38 |
NC_000012.11:g.52881900A>G , CM000674.1:g.52881900A>G | GRCh37 |
NC_000012.10:g.51168167A>G | NCBI36 |
NG_008298.1:g.10282T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.1425-13T>C MANE Select | ENSP00000369317.3:n.1425-13T>C | |
ENST00000330722.6:c.1425-13T>C | ENSP00000369317.3:n.1425-13T>C | |
NM_005554.3:c.1425-13T>C | NP_005545.1:n.1425-13T>C | |
NM_005554.4:c.1425-13T>C MANE Select | NP_005545.1:n.1425-13T>C |