HGVS | Genome Assembly |
---|---|
NC_000008.11:g.10622762C>A , CM000670.2:g.10622762C>A | GRCh38 |
NC_000008.10:g.10480272C>A , CM000670.1:g.10480272C>A | GRCh37 |
NC_000008.9:g.10517682C>A | NCBI36 |
NG_028035.1:g.37346G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382483.4:c.440G>T MANE Select | ENSP00000371923.3:p.Ser147Ile | |
ENST00000329335.3:n.690G>T | ||
ENST00000382483.3:c.440G>T | ENSP00000371923.3:p.Ser147Ile | |
NM_178857.5:c.440G>T | NP_849188.4:p.Ser147Ile | |
NM_178857.6:c.440G>T MANE Select | NP_849188.4:p.Ser147Ile |