HGVS | Genome Assembly |
---|---|
NC_000003.12:g.165830035T>G , CM000665.2:g.165830035T>G | GRCh38 |
NC_000003.11:g.165547823T>G , CM000665.1:g.165547823T>G | GRCh37 |
NC_000003.10:g.167030517T>G | NCBI36 |
NG_009031.1:g.12431A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264381.8:c.999A>C MANE Select | ENSP00000264381.3:p.Ile333= | |
ENST00000264381.7:c.999A>C | ENSP00000264381.3:p.Ile333= | |
ENST00000479451.5:c.107+7279A>C | ENSP00000418325.1:n.107+7279A>C | |
ENST00000482958.1:c.999A>C | ENSP00000419804.1:p.Ile333= | |
ENST00000488954.1:c.107+7279A>C | ENSP00000418504.1:n.107+7279A>C | |
ENST00000497011.5:c.999A>C | ENSP00000419505.1:p.Ile333= | |
NM_000055.2:c.999A>C | NP_000046.1:p.Ile333= | |
XM_005247685.1:c.1122A>C | XP_005247742.1:p.Ile374= | |
NM_000055.3:c.999A>C | NP_000046.1:p.Ile333= | |
NR_137635.1:n.159+7279A>C | ||
NR_137636.1:n.1166A>C | ||
NM_000055.4:c.999A>C MANE Select | NP_000046.1:p.Ile333= | |
NR_137635.2:n.110+7279A>C | ||
NR_137636.2:n.1117A>C |