HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28342119A>G , CM000675.2:g.28342119A>G | GRCh38 |
NC_000013.10:g.28916256A>G , CM000675.1:g.28916256A>G | GRCh37 |
NC_000013.9:g.27814256A>G | NCBI36 |
NG_012003.1:g.158010T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000706527.1:n.181-2819T>C | ||
ENST00000282397.9:c.2356-2819T>C MANE Select | ENSP00000282397.4:n.2356-2819T>C | |
ENST00000282397.8:c.2356-2819T>C | ENSP00000282397.4:n.2356-2819T>C | |
ENST00000540678.2:c.-1404-2819T>C | ENSP00000443311.2:n.-1404-2819T>C | |
NM_002019.4:c.2356-2819T>C MANE Select | NP_002010.2:n.2356-2819T>C | |
XM_017020485.1:c.2356-2819T>C | XP_016875974.1:n.2356-2819T>C |