HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52433909A>G , CM000674.2:g.52433909A>G | GRCh38 |
NC_000012.11:g.52827693A>G , CM000674.1:g.52827693A>G | GRCh37 |
NC_000012.10:g.51113960A>G | NCBI36 |
NG_008403.1:g.5418T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252245.6:c.396T>C MANE Select | ENSP00000252245.5:p.Thr132= | |
ENST00000252245.5:c.396T>C | ENSP00000252245.5:p.Thr132= | |
NM_004693.2:c.396T>C | NP_004684.2:p.Thr132= | |
NM_004693.3:c.396T>C MANE Select | NP_004684.2:p.Thr132= |