HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280901A>G , CM000679.2:g.58280901A>G | GRCh38 |
NC_000017.10:g.56358262A>G , CM000679.1:g.56358262A>G | GRCh37 |
NC_000017.9:g.53713261A>G | NCBI36 |
NG_009629.1:g.5035T>C , LRG_84:g.5035T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225275.4:c.-143T>C MANE Select | ENSP00000225275.3:n.-143T>C | |
ENST00000225275.3:c.-143T>C | ENSP00000225275.3:n.-143T>C | |
NM_000250.1:c.-143T>C , LRG_84t1:c.-143T>C | NP_000241.1:n.-143T>C | |
XM_011524821.1:c.215+24T>C | XP_011523123.1:n.215+24T>C | |
XM_011524823.1:c.215+24T>C | XP_011523125.1:n.215+24T>C | |
NM_000250.2:c.-143T>C MANE Select | NP_000241.1:n.-143T>C |