HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52492671T>G , CM000674.2:g.52492671T>G | GRCh38 |
NC_000012.11:g.52886455T>G , CM000674.1:g.52886455T>G | GRCh37 |
NC_000012.10:g.51172722T>G | NCBI36 |
NG_008298.1:g.5727A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.518A>C MANE Select | ENSP00000369317.3:p.Lys173Thr | |
ENST00000330722.6:c.518A>C | ENSP00000369317.3:p.Lys173Thr | |
ENST00000549898.5:n.39A>C | ||
NM_005554.3:c.518A>C | NP_005545.1:p.Lys173Thr | |
NM_005554.4:c.518A>C MANE Select | NP_005545.1:p.Lys173Thr |