HGVS | Genome Assembly |
---|---|
NC_000002.12:g.86030076A>G , CM000664.2:g.86030076A>G | GRCh38 |
NC_000002.11:g.86257199A>G , CM000664.1:g.86257199A>G | GRCh37 |
NC_000002.10:g.86110710A>G | NCBI36 |
NG_050742.2:g.81080T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263857.11:c.4779+120T>C MANE Select | ENSP00000263857.6:n.4779+120T>C | |
ENST00000263857.10:c.4779+120T>C | ENSP00000263857.6:n.4779+120T>C | |
ENST00000409681.1:c.4596+120T>C | ENSP00000386300.1:n.4596+120T>C | |
NM_015425.3:c.4779+120T>C | NP_056240.2:n.4779+120T>C | |
XM_006711983.2:c.4455+120T>C | XP_006712046.1:n.4455+120T>C | |
NM_015425.5:c.4779+120T>C | NP_056240.2:n.4779+120T>C | |
NM_015425.6:c.4779+120T>C MANE Select | NP_056240.2:n.4779+120T>C |