HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110589928A>C , CM000672.2:g.110589928A>C | GRCh38 |
NC_000010.10:g.112349686A>C , CM000672.1:g.112349686A>C | GRCh37 |
NC_000010.9:g.112339676A>C | NCBI36 |
NG_012217.1:g.27238A>C , LRG_774:g.27238A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684797.1:n.1346A>C | ||
ENST00000684988.1:n.2091A>C | ||
ENST00000687823.1:n.1360A>C | ||
ENST00000689932.1:n.3509A>C | ||
ENST00000691297.1:n.1579A>C | ||
ENST00000691527.1:n.2249A>C | ||
ENST00000692792.1:n.1565A>C | ||
ENST00000361804.5:c.1446A>C MANE Select | ENSP00000354720.5:p.Ala482= | |
ENST00000361804.4:c.1446A>C | ENSP00000354720.4:p.Ala482= | |
NM_005445.3:c.1446A>C , LRG_774t1:c.1446A>C | NP_005436.1:p.Ala482= | |
NM_005445.4:c.1446A>C MANE Select | NP_005436.1:p.Ala482= |