HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128318923C>T , CM000667.2:g.128318923C>T | GRCh38 |
NC_000005.9:g.127654615C>T , CM000667.1:g.127654615C>T | GRCh37 |
NC_000005.8:g.127682514C>T | NCBI36 |
NG_008750.1:g.224121G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703783.1:n.1334G>A | ||
ENST00000703785.1:n.1415G>A | ||
ENST00000262464.9:c.4550G>A MANE Select | ENSP00000262464.4:p.Cys1517Tyr | |
ENST00000262464.8:c.4550G>A | ENSP00000262464.4:p.Cys1517Tyr | |
ENST00000508053.5:c.4550G>A | ENSP00000424571.1:p.Cys1517Tyr | |
ENST00000619499.4:c.4547G>A | ENSP00000482132.1:p.Cys1516Tyr | |
NM_001999.3:c.4550G>A | NP_001990.2:p.Cys1517Tyr | |
XM_017009228.2:c.4397G>A | XP_016864717.1:p.Cys1466Tyr | |
NM_001999.4:c.4550G>A MANE Select | NP_001990.2:p.Cys1517Tyr |