HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94415173T>C , CM000669.2:g.94415173T>C | GRCh38 |
NC_000007.13:g.94044485T>C , CM000669.1:g.94044485T>C | GRCh37 |
NC_000007.12:g.93882421T>C | NCBI36 |
NG_007405.1:g.25613T>C , LRG_2:g.25613T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.1720-53T>C MANE Select | ENSP00000297268.6:n.1720-53T>C | |
ENST00000297268.10:c.1720-53T>C | ENSP00000297268.6:n.1720-53T>C | |
ENST00000473573.5:n.57-53T>C | ||
ENST00000488298.5:n.144-53T>C | ||
ENST00000620463.1:c.1714-53T>C | ENSP00000477719.1:n.1714-53T>C | |
NM_000089.3:c.1720-53T>C , LRG_2t1:c.1720-53T>C | NP_000080.2:n.1720-53T>C | |
NM_000089.4:c.1720-53T>C MANE Select | NP_000080.2:n.1720-53T>C |