HGVS | Genome Assembly |
---|---|
NC_000014.9:g.64227153G>T , CM000676.2:g.64227153G>T | GRCh38 |
NC_000014.8:g.64693871G>T , CM000676.1:g.64693871G>T | GRCh37 |
NC_000014.7:g.63763624G>T | NCBI36 |
NG_011535.1:g.116398C>A | |
NG_011756.1:g.379189G>T | |
NG_011756.2:g.470255G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000353772.7:c.*380C>A | ENSP00000335551.4:n.*380C>A | |
ENST00000554572.5:c.*380C>A | ENSP00000450699.1:n.*380C>A | |
ENST00000556275.5:c.1406+7817C>A | ENSP00000452485.2:n.1406+7817C>A | |
NM_001040275.1:c.*380C>A | NP_001035365.1:n.*380C>A | |
NM_001214902.1:c.*737C>A | NP_001201831.1:n.*737C>A | |
NM_001291712.1:c.*380C>A | NP_001278641.1:n.*380C>A | |
NM_001291723.1:c.*380C>A | NP_001278652.1:n.*380C>A | |
NR_073496.1:n.2472C>A | ||
XM_011536545.1:c.1406+7817C>A | XP_011534847.1:n.1406+7817C>A | |
XR_001750187.1:n.2304C>A | ||
NM_001291712.2:c.*380C>A | NP_001278641.1:n.*380C>A | |
NR_073496.2:n.2535C>A |