HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52488482T>G , CM000674.2:g.52488482T>G | GRCh38 |
NC_000012.11:g.52882266T>G , CM000674.1:g.52882266T>G | GRCh37 |
NC_000012.10:g.51168533T>G | NCBI36 |
NG_008298.1:g.9916A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.1270A>C MANE Select | ENSP00000369317.3:p.Lys424Gln | |
ENST00000330722.6:c.1270A>C | ENSP00000369317.3:p.Lys424Gln | |
NM_005554.3:c.1270A>C | NP_005545.1:p.Lys424Gln | |
NM_005554.4:c.1270A>C MANE Select | NP_005545.1:p.Lys424Gln |