HGVS | Genome Assembly |
---|---|
NC_000019.10:g.694795G>A , CM000681.2:g.694795G>A | GRCh38 |
NC_000019.9:g.694795G>A , CM000681.1:g.694795G>A | GRCh37 |
NC_000019.8:g.645795G>A | NCBI36 |
NG_051189.1:g.5737C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329267.9:c.233+19C>T MANE Select | ENSP00000327386.6:n.233+19C>T | |
ENST00000329267.8:c.233+19C>T | ENSP00000327386.6:n.233+19C>T | |
ENST00000613411.4:c.236+19C>T | ENSP00000482358.1:n.236+19C>T | |
NM_001308209.1:c.233+19C>T | NP_001295138.1:n.233+19C>T | |
NM_214710.3:c.236+19C>T | NP_999875.1:n.236+19C>T | |
NM_214710.4:c.236+19C>T | NP_999875.1:n.236+19C>T | |
NM_001308209.2:c.233+19C>T MANE Select | NP_001295138.2:n.233+19C>T | |
NM_214710.5:c.236+19C>T | NP_999875.2:n.236+19C>T |