HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917534G>T , CM000685.2:g.29917534G>T | GRCh38 |
NC_000023.10:g.29935651G>T , CM000685.1:g.29935651G>T | GRCh37 |
NC_000023.9:g.29845572G>T | NCBI36 |
NG_008292.1:g.1334971G>T | |
NG_008292.2:g.1334971G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.849G>T MANE Select | ENSP00000368278.1:p.Trp283Cys | |
ENST00000302196.5:c.72G>T | ENSP00000305200.5:p.Trp24Cys | |
ENST00000378993.5:c.849G>T | ENSP00000368278.1:p.Trp283Cys | |
NM_014271.3:c.849G>T | NP_055086.1:p.Trp283Cys | |
XM_005274441.1:c.849G>T | XP_005274498.1:p.Trp283Cys | |
XM_011545445.1:c.849G>T | XP_011543747.1:p.Trp283Cys | |
XM_017029240.1:c.849G>T | XP_016884729.1:p.Trp283Cys | |
XM_017029241.1:c.471G>T | XP_016884730.1:p.Trp157Cys | |
NM_014271.4:c.849G>T MANE Select | NP_055086.1:p.Trp283Cys |