HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202518826T>A , CM000664.2:g.202518826T>A | GRCh38 |
NC_000002.11:g.203383549T>A , CM000664.1:g.203383549T>A | GRCh37 |
NC_000002.10:g.203091794T>A | NCBI36 |
NG_009363.1:g.147500T>A , LRG_712:g.147500T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.626T>A MANE Select | ENSP00000363708.4:p.Ile209Asn | |
ENST00000638587.1:c.557T>A | ENSP00000491062.1:p.Ile186Asn | |
ENST00000374574.2:c.626T>A | ENSP00000363702.2:p.Ile209Asn | |
ENST00000374580.8:c.626T>A | ENSP00000363708.4:p.Ile209Asn | |
NM_001204.6:c.626T>A , LRG_712t1:c.626T>A | NP_001195.2:p.Ile209Asn | |
XM_011511687.1:c.626T>A | XP_011509989.1:p.Ile209Asn | |
XM_011511688.1:c.626T>A | XP_011509990.1:p.Ile209Asn | |
NM_001204.7:c.626T>A MANE Select | NP_001195.2:p.Ile209Asn |