HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3517991C>T , CM000666.2:g.3517991C>T | GRCh38 |
NC_000004.11:g.3519718C>T , CM000666.1:g.3519718C>T | GRCh37 |
NC_000004.10:g.3489516C>T | NCBI36 |
NG_033873.1:g.19507G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648517.1:c.751+43G>A | ENSP00000496947.1:n.751+43G>A | |
ENST00000650182.1:c.751+43G>A MANE Select | ENSP00000497444.1:n.751+43G>A | |
ENST00000296325.9:n.714+43G>A | ||
ENST00000500728.2:c.751+43G>A | ENSP00000421922.1:n.751+43G>A | |
ENST00000509198.1:n.840G>A | ||
ENST00000515119.5:c.*528+43G>A | ENSP00000421648.1:n.*528+43G>A | |
NM_002337.3:c.751+43G>A | NP_002328.1:n.751+43G>A | |
NR_110005.1:n.714+43G>A | ||
NM_002337.4:c.751+43G>A MANE Select | NP_002328.1:n.751+43G>A | |
XR_002959730.1:n.879G>A | ||
NR_110005.2:n.714+43G>A |