HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48965336T>C , CM000681.2:g.48965336T>C | GRCh38 |
NC_000019.9:g.49468593T>C , CM000681.1:g.49468593T>C | GRCh37 |
NC_000019.8:g.54160405T>C | NCBI36 |
NG_008152.1:g.5028T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331825.11:c.-172T>C MANE Select | ENSP00000366525.2:n.-172T>C | |
ENST00000331825.10:c.-172T>C | ENSP00000366525.2:n.-172T>C | |
ENST00000622577.2:c.-172T>C | ENSP00000484043.1:n.-172T>C | |
NM_000146.3:c.-172T>C | NP_000137.2:n.-172T>C | |
XM_024451447.1:c.339T>C | XP_024307215.1:p.Ser113= | |
NM_000146.4:c.-172T>C MANE Select | NP_000137.2:n.-172T>C |