HGVS | Genome Assembly |
---|---|
NC_000001.11:g.63849808G>C , CM000663.2:g.63849808G>C | GRCh38 |
NC_000001.10:g.64315479G>C , CM000663.1:g.64315479G>C | GRCh37 |
NC_000001.9:g.64088067G>C | NCBI36 |
NG_032801.1:g.80790G>C | |
NG_032801.2:g.80790G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371079.6:c.91+75300G>C MANE Select | ENSP00000360120.1:n.91+75300G>C | |
ENST00000371079.5:c.91+75300G>C | ENSP00000360120.1:n.91+75300G>C | |
ENST00000371080.5:c.91+75300G>C | ENSP00000360121.1:n.91+75300G>C | |
ENST00000482426.1:n.125+74394G>C | ||
NM_001083592.1:c.91+75300G>C | NP_001077061.1:n.91+75300G>C | |
NM_005012.3:c.91+75300G>C | NP_005003.2:n.91+75300G>C | |
NM_005012.4:c.91+75300G>C MANE Select | NP_005003.2:n.91+75300G>C | |
NM_001083592.2:c.91+75300G>C | NP_001077061.1:n.91+75300G>C |