HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110578694T>C , CM000672.2:g.110578694T>C | GRCh38 |
NC_000010.10:g.112338452T>C , CM000672.1:g.112338452T>C | GRCh37 |
NC_000010.9:g.112328442T>C | NCBI36 |
NG_012217.1:g.16004T>C , LRG_774:g.16004T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.550T>C | ||
ENST00000687823.1:n.331T>C | ||
ENST00000689932.1:n.2480T>C | ||
ENST00000691297.1:n.550T>C | ||
ENST00000691527.1:n.1220T>C | ||
ENST00000692792.1:n.536T>C | ||
ENST00000361804.5:c.417T>C MANE Select | ENSP00000354720.5:p.Val139= | |
ENST00000361804.4:c.417T>C | ENSP00000354720.4:p.Val139= | |
ENST00000462899.1:n.563T>C | ||
NM_005445.3:c.417T>C , LRG_774t1:c.417T>C | NP_005436.1:p.Val139= | |
NM_005445.4:c.417T>C MANE Select | NP_005436.1:p.Val139= |