HGVS | Genome Assembly |
---|---|
NC_000023.11:g.132097298C>T , CM000685.2:g.132097298C>T | GRCh38 |
NC_000023.10:g.131231326C>T , CM000685.1:g.131231326C>T | GRCh37 |
NC_000023.9:g.131059007C>T | NCBI36 |
NG_012347.1:g.35725G>A , LRG_867:g.35725G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298542.9:c.252G>A MANE Select | ENSP00000298542.3:p.Val84= | |
ENST00000298542.8:c.252G>A | ENSP00000298542.3:p.Val84= | |
ENST00000464296.1:c.207G>A | ENSP00000417996.1:p.Met69Ile | |
NM_001306193.1:c.207G>A | NP_001293122.1:p.Met69Ile | |
NM_194277.2:c.252G>A , LRG_867t1:c.252G>A | NP_919253.1:p.Val84= | |
XM_017029947.2:c.204G>A | XP_016885436.1:p.Val68= | |
XM_017029948.2:c.30-3159G>A | XP_016885437.1:n.30-3159G>A | |
NM_001306193.2:c.207G>A | NP_001293122.1:p.Met69Ile | |
NM_194277.3:c.252G>A MANE Select | NP_919253.1:p.Val84= |