HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21006715T>G , CM000664.2:g.21006715T>G | GRCh38 |
NC_000002.11:g.21229587T>G , CM000664.1:g.21229587T>G | GRCh37 |
NC_000002.10:g.21083092T>G | NCBI36 |
NG_011793.1:g.42359A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000233242.5:c.10153A>C MANE Select | ENSP00000233242.1:p.Thr3385Pro | |
ENST00000616098.4:c.10153A>C | ENSP00000477990.1:p.Thr3385Pro | |
NM_000384.2:c.10153A>C | NP_000375.2:p.Thr3385Pro | |
XM_011532809.1:c.5869+4018A>C | XP_011531111.1:n.5869+4018A>C | |
NM_000384.3:c.10153A>C MANE Select | NP_000375.3:p.Thr3385Pro |