HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278715C>T , CM000678.2:g.2278715C>T | GRCh38 |
NC_000016.9:g.2328716C>T , CM000678.1:g.2328716C>T | GRCh37 |
NC_000016.8:g.2268717C>T | NCBI36 |
NG_011790.1:g.67032G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.4547+228G>A MANE Select | ENSP00000301732.5:n.4547+228G>A | |
ENST00000301732.9:c.4547+228G>A | ENSP00000301732.5:n.4547+228G>A | |
ENST00000382381.7:c.4373+228G>A | ENSP00000371818.3:n.4373+228G>A | |
ENST00000566200.1:n.1068+228G>A | ||
NM_001089.2:c.4547+228G>A | NP_001080.2:n.4547+228G>A | |
NM_001089.3:c.4547+228G>A MANE Select | NP_001080.2:n.4547+228G>A |