HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152310561A>G , CM000663.2:g.152310561A>G | GRCh38 |
NC_000001.10:g.152283037A>G , CM000663.1:g.152283037A>G | GRCh37 |
NC_000001.9:g.150549661A>G | NCBI36 |
NG_016190.1:g.19643T>C , LRG_1028:g.19643T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.4325T>C MANE Select | ENSP00000357789.1:p.Leu1442Pro | |
ENST00000368799.1:c.4325T>C | ENSP00000357789.1:p.Leu1442Pro | |
NM_002016.1:c.4325T>C , LRG_1028t1:c.4325T>C | NP_002007.1:p.Leu1442Pro | |
XM_011509329.1:c.4325T>C | XP_011507631.1:p.Leu1442Pro | |
NM_002016.2:c.4325T>C MANE Select | NP_002007.1:p.Leu1442Pro |