HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232541321G>T , CM000664.2:g.232541321G>T | GRCh38 |
NC_000002.11:g.233406031G>T , CM000664.1:g.233406031G>T | GRCh37 |
NC_000002.10:g.233114275G>T | NCBI36 |
NG_012954.1:g.6595G>T | |
NG_012954.2:g.6630G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.351-53G>T MANE Select | ENSP00000498757.1:n.351-53G>T | |
ENST00000389492.3:c.350+610G>T | ENSP00000374143.3:n.350+610G>T | |
ENST00000389494.7:c.351-53G>T | ENSP00000374145.3:n.351-53G>T | |
ENST00000485094.1:n.372-53G>T | ||
NM_005199.4:c.351-53G>T | NP_005190.4:n.351-53G>T | |
NM_005199.5:c.351-53G>T MANE Select | NP_005190.4:n.351-53G>T |