HGVS | Genome Assembly |
---|---|
NC_000007.14:g.129005130A>G , CM000669.2:g.129005130A>G | GRCh38 |
NC_000007.13:g.128645184A>G , CM000669.1:g.128645184A>G | GRCh37 |
NC_000007.12:g.128432420A>G | NCBI36 |
NG_023428.1:g.55044T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265388.10:c.582T>C MANE Select | ENSP00000265388.5:p.Asp194= | |
ENST00000265388.9:c.582T>C | ENSP00000265388.5:p.Asp194= | |
ENST00000471166.1:c.582T>C | ENSP00000418267.1:p.Asp194= | |
ENST00000471234.5:c.582T>C | ENSP00000418646.1:p.Asp194= | |
ENST00000482320.5:c.384T>C | ENSP00000420089.1:p.Asp128= | |
ENST00000627585.2:c.582T>C | ENSP00000487231.1:p.Asp194= | |
NM_001191028.2:c.582T>C | NP_001177957.2:p.Asp194= | |
NM_012470.3:c.582T>C | NP_036602.1:p.Asp194= | |
NR_034053.2:n.1146T>C | ||
XM_011515989.1:c.384T>C | XP_011514291.1:p.Asp128= | |
NM_001191028.3:c.582T>C | NP_001177957.2:p.Asp194= | |
NM_001382216.1:c.582T>C | NP_001369145.1:p.Asp194= | |
NM_001382217.1:c.663T>C | NP_001369146.1:p.Asp221= | |
NM_001382218.1:c.582T>C | NP_001369147.1:p.Asp194= | |
NM_001382219.1:c.582T>C | NP_001369148.1:p.Asp194= | |
NM_001382220.1:c.582T>C | NP_001369149.1:p.Asp194= | |
NM_001382221.1:c.553-3896T>C | NP_001369150.1:n.553-3896T>C | |
NM_001382222.1:c.582T>C | NP_001369151.1:p.Asp194= | |
NM_001382223.1:c.582T>C | NP_001369152.1:p.Asp194= | |
NM_012470.4:c.582T>C MANE Select | NP_036602.1:p.Asp194= | |
NR_034053.3:n.1084T>C | ||
NR_167911.1:n.1171T>C | ||
NR_167912.1:n.923T>C | ||
NR_167913.1:n.923T>C | ||
NR_167914.1:n.923T>C | ||
NR_167915.1:n.1084T>C | ||
NR_167916.1:n.923T>C | ||
NR_167917.1:n.923T>C | ||
NR_167918.1:n.1209T>C | ||
NR_167919.1:n.1048T>C | ||
NR_167920.1:n.1209T>C | ||
NR_167921.1:n.1048T>C | ||
NR_167922.1:n.1045T>C | ||
NR_167923.1:n.1048T>C | ||
NR_167924.1:n.923T>C | ||
NR_167925.1:n.923T>C | ||
NR_167926.1:n.1206T>C | ||
NR_167927.1:n.1048T>C |