HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152310793C>G , CM000663.2:g.152310793C>G | GRCh38 |
NC_000001.10:g.152283269C>G , CM000663.1:g.152283269C>G | GRCh37 |
NC_000001.9:g.150549893C>G | NCBI36 |
NG_016190.1:g.19411G>C , LRG_1028:g.19411G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368799.2:c.4093G>C MANE Select | ENSP00000357789.1:p.Ala1365Pro | |
ENST00000368799.1:c.4093G>C | ENSP00000357789.1:p.Ala1365Pro | |
NM_002016.1:c.4093G>C , LRG_1028t1:c.4093G>C | NP_002007.1:p.Ala1365Pro | |
XM_011509329.1:c.4093G>C | XP_011507631.1:p.Ala1365Pro | |
NM_002016.2:c.4093G>C MANE Select | NP_002007.1:p.Ala1365Pro |