HGVS | Genome Assembly |
---|---|
NC_000002.12:g.71124320A>T , CM000664.2:g.71124320A>T | GRCh38 |
NC_000002.11:g.71351450A>T , CM000664.1:g.71351450A>T | GRCh37 |
NC_000002.10:g.71204958A>T | NCBI36 |
NG_008977.1:g.10945T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244217.6:c.264T>A MANE Select | ENSP00000244217.5:p.Phe88Leu | |
ENST00000244217.5:c.264T>A | ENSP00000244217.5:p.Phe88Leu | |
ENST00000413592.5:c.84+48T>A | ENSP00000391140.1:n.84+48T>A | |
ENST00000486135.1:c.-22T>A | ENSP00000441569.1:n.-22T>A | |
ENST00000494660.6:c.-22T>A | ENSP00000437361.1:n.-22T>A | |
NM_032601.3:c.264T>A | NP_115990.3:p.Phe88Leu | |
XM_005264613.2:c.216+48T>A | XP_005264670.1:n.216+48T>A | |
XR_939729.1:n.333T>A | ||
XR_939729.2:n.333T>A | ||
NM_032601.4:c.264T>A MANE Select | NP_115990.3:p.Phe88Leu |