HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74763500C>T , CM000679.2:g.74763500C>T | GRCh38 |
NC_000017.10:g.72759639C>T , CM000679.1:g.72759639C>T | GRCh37 |
NC_000017.9:g.70271234C>T | NCBI36 |
NG_013022.1:g.19877C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262613.10:c.737C>T MANE Select | ENSP00000262613.5:p.Pro246Leu | |
ENST00000262613.9:c.737C>T | ENSP00000262613.5:p.Pro246Leu | |
ENST00000413388.2:c.269C>T | ENSP00000464982.1:p.Pro90Leu | |
ENST00000578958.1:n.471C>T | ||
ENST00000581356.1:c.73C>T | ||
ENST00000583369.5:c.442-4647C>T | ENSP00000464321.1:n.442-4647C>T | |
NM_004252.4:c.737C>T | NP_004243.1:p.Pro246Leu | |
XR_002958087.1:n.956C>T | ||
NM_004252.5:c.737C>T MANE Select | NP_004243.1:p.Pro246Leu |