HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152310931G>C , CM000663.2:g.152310931G>C | GRCh38 |
NC_000001.10:g.152283407G>C , CM000663.1:g.152283407G>C | GRCh37 |
NC_000001.9:g.150550031G>C | NCBI36 |
NG_016190.1:g.19273C>G , LRG_1028:g.19273C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.3955C>G MANE Select | ENSP00000357789.1:p.His1319Asp | |
ENST00000368799.1:c.3955C>G | ENSP00000357789.1:p.His1319Asp | |
NM_002016.1:c.3955C>G , LRG_1028t1:c.3955C>G | NP_002007.1:p.His1319Asp | |
XM_011509329.1:c.3955C>G | XP_011507631.1:p.His1319Asp | |
NM_002016.2:c.3955C>G MANE Select | NP_002007.1:p.His1319Asp |