HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110582065G>C , CM000672.2:g.110582065G>C | GRCh38 |
NC_000010.10:g.112341823G>C , CM000672.1:g.112341823G>C | GRCh37 |
NC_000010.9:g.112331813G>C | NCBI36 |
NG_012217.1:g.19375G>C , LRG_774:g.19375G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.823G>C | ||
ENST00000687823.1:n.604G>C | ||
ENST00000689932.1:n.2753G>C | ||
ENST00000691297.1:n.823G>C | ||
ENST00000691527.1:n.1493G>C | ||
ENST00000692792.1:n.809G>C | ||
ENST00000361804.5:c.690G>C MANE Select | ENSP00000354720.5:p.Gln230His | |
ENST00000361804.4:c.690G>C | ENSP00000354720.4:p.Gln230His | |
NM_005445.3:c.690G>C , LRG_774t1:c.690G>C | NP_005436.1:p.Gln230His | |
NM_005445.4:c.690G>C MANE Select | NP_005436.1:p.Gln230His |