HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6023774G>A , CM000674.2:g.6023774G>A | GRCh38 |
NC_000012.11:g.6132940G>A , CM000674.1:g.6132940G>A | GRCh37 |
NC_000012.10:g.6003201G>A | NCBI36 |
NG_009072.1:g.105897C>T | |
NG_009072.2:g.105897C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.3236C>T MANE Select | ENSP00000261405.5:p.Pro1079Leu | |
ENST00000261405.9:c.3236C>T | ENSP00000261405.5:p.Pro1079Leu | |
ENST00000538635.5:n.421-29840C>T | ||
NM_000552.3:c.3236C>T | NP_000543.2:p.Pro1079Leu | |
NM_000552.4:c.3236C>T | NP_000543.2:p.Pro1079Leu | |
NM_000552.5:c.3236C>T MANE Select | NP_000543.3:p.Pro1079Leu |