HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202542405A>C , CM000664.2:g.202542405A>C | GRCh38 |
NC_000002.11:g.203407128A>C , CM000664.1:g.203407128A>C | GRCh37 |
NC_000002.10:g.203115373A>C | NCBI36 |
NG_009363.1:g.171079A>C , LRG_712:g.171079A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.1371A>C MANE Select | ENSP00000363708.4:p.Lys457Asn | |
ENST00000638587.1:c.1302A>C | ENSP00000491062.1:p.Lys434Asn | |
ENST00000374574.2:c.1371A>C | ENSP00000363702.2:p.Lys457Asn | |
ENST00000374580.8:c.1371A>C | ENSP00000363708.4:p.Lys457Asn | |
NM_001204.6:c.1371A>C , LRG_712t1:c.1371A>C | NP_001195.2:p.Lys457Asn | |
XM_011511687.1:c.1371A>C | XP_011509989.1:p.Lys457Asn | |
XM_011511688.1:c.1371A>C | XP_011509990.1:p.Lys457Asn | |
NM_001204.7:c.1371A>C MANE Select | NP_001195.2:p.Lys457Asn |