HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352554G>A , CM000671.2:g.133352554G>A | GRCh38 |
NC_000009.10:g.135209230G>A | NCBI36 |
NG_008477.1:g.8953C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.643C>T MANE Select | ENSP00000361042.3:p.Pro215Ser | |
ENST00000371974.7:c.643C>T | ENSP00000361042.3:p.Pro215Ser | |
ENST00000437995.1:n.553C>T | ||
ENST00000495952.5:n.633C>T | ||
ENST00000615505.4:c.316C>T | ENSP00000482067.1:p.Pro106Ser | |
NM_001280787.1:c.316C>T | NP_001267716.1:p.Pro106Ser | |
NM_003172.3:c.643C>T | NP_003163.1:p.Pro215Ser | |
XM_011518942.1:c.316C>T | XP_011517244.1:p.Pro106Ser | |
NM_003172.4:c.643C>T MANE Select | NP_003163.1:p.Pro215Ser |