HGVS | Genome Assembly |
---|---|
NC_000001.11:g.99851128A>C , CM000663.2:g.99851128A>C | GRCh38 |
NC_000001.10:g.100316684A>C , CM000663.1:g.100316684A>C | GRCh37 |
NC_000001.9:g.100089272A>C | NCBI36 |
NG_012865.1:g.6045A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361915.8:c.82+4A>C MANE Select | ENSP00000355106.3:n.82+4A>C | |
ENST00000294724.8:c.82+4A>C | ENSP00000294724.4:n.82+4A>C | |
ENST00000361302.7:c.-110+4A>C | ENSP00000354971.3:n.-110+4A>C | |
ENST00000361915.7:c.82+4A>C | ENSP00000355106.3:n.82+4A>C | |
ENST00000370163.7:c.82+4A>C | ENSP00000359182.3:n.82+4A>C | |
ENST00000370165.7:c.82+4A>C | ENSP00000359184.3:n.82+4A>C | |
NM_000028.2:c.82+4A>C | NP_000019.2:n.82+4A>C | |
NM_000642.2:c.82+4A>C | NP_000633.2:n.82+4A>C | |
NM_000643.2:c.82+4A>C | NP_000634.2:n.82+4A>C | |
NM_000644.2:c.82+4A>C | NP_000635.2:n.82+4A>C | |
NM_000646.2:c.-110+4A>C | NP_000637.2:n.-110+4A>C | |
XM_005270557.1:c.82+4A>C | XP_005270614.1:n.82+4A>C | |
XM_005270557.2:c.82+4A>C | XP_005270614.1:n.82+4A>C | |
NM_000642.3:c.82+4A>C MANE Select | NP_000633.2:n.82+4A>C |