HGVS | Genome Assembly |
---|---|
NC_000007.14:g.121263714T>C , CM000669.2:g.121263714T>C | GRCh38 |
NC_000007.13:g.120903768T>C , CM000669.1:g.120903768T>C | GRCh37 |
NC_000007.12:g.120691004T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310396.10:c.2311-2513T>C MANE Select | ENSP00000309772.5:n.2311-2513T>C | |
ENST00000310396.9:c.2311-2513T>C | ENSP00000309772.5:n.2311-2513T>C | |
NM_024913.4:c.2311-2513T>C | NP_079189.4:n.2311-2513T>C | |
XM_011516583.1:c.2311-2513T>C | XP_011514885.1:n.2311-2513T>C | |
XR_927916.1:n.48+2947A>G | ||
XM_024446941.1:c.1798-2513T>C | XP_024302709.1:n.1798-2513T>C | |
NM_024913.5:c.2311-2513T>C MANE Select | NP_079189.4:n.2311-2513T>C |