HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94426428A>G , CM000669.2:g.94426428A>G | GRCh38 |
NC_000007.13:g.94055740A>G , CM000669.1:g.94055740A>G | GRCh37 |
NC_000007.12:g.93893676A>G | NCBI36 |
NG_007405.1:g.36868A>G , LRG_2:g.36868A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.3003A>G MANE Select | ENSP00000297268.6:p.Pro1001= | |
ENST00000297268.10:c.3003A>G | ENSP00000297268.6:p.Pro1001= | |
ENST00000478215.1:n.562A>G | ||
ENST00000481570.5:n.2976A>G | ||
ENST00000620463.1:c.2997A>G | ENSP00000477719.1:p.Pro999= | |
NM_000089.3:c.3003A>G , LRG_2t1:c.3003A>G | NP_000080.2:p.Pro1001= | |
NM_000089.4:c.3003A>G MANE Select | NP_000080.2:p.Pro1001= |