HGVS | Genome Assembly |
---|---|
NC_000006.12:g.80106612T>C , CM000668.2:g.80106612T>C | GRCh38 |
NC_000006.11:g.80816329T>C , CM000668.1:g.80816329T>C | GRCh37 |
NC_000006.10:g.80873048T>C | NCBI36 |
NG_009775.1:g.4986T>C | |
NG_009775.2:g.4986T>C |
HGVS | Amino-acid Change | |
---|---|---|
NM_000056.4:c.-82T>C | NP_000047.1:n.-82T>C | |
NM_001318975.1:c.-86T>C | NP_001305904.1:n.-86T>C | |
NM_183050.3:c.-82T>C | NP_898871.1:n.-82T>C | |
NR_134945.1:n.3T>C |