HGVS | Genome Assembly |
---|---|
NC_000007.14:g.98187050T>C , CM000669.2:g.98187050T>C | GRCh38 |
NC_000007.13:g.97816362T>C , CM000669.1:g.97816362T>C | GRCh37 |
NC_000007.12:g.97654298T>C | NCBI36 |
NG_013375.1:g.85166T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297293.6:c.998+52T>C MANE Select | ENSP00000297293.5:n.998+52T>C | |
ENST00000297293.5:c.998+52T>C | ENSP00000297293.5:n.998+52T>C | |
NM_014916.3:c.998+52T>C | NP_055731.2:n.998+52T>C | |
XM_011515981.1:c.992+52T>C | XP_011514283.1:n.992+52T>C | |
XM_011515981.3:c.992+52T>C | XP_011514283.1:n.992+52T>C | |
NM_014916.4:c.998+52T>C MANE Select | NP_055731.2:n.998+52T>C |