HGVS | Genome Assembly |
---|---|
NC_000007.14:g.129018044G>A , CM000669.2:g.129018044G>A | GRCh38 |
NC_000007.13:g.128658098G>A , CM000669.1:g.128658098G>A | GRCh37 |
NC_000007.12:g.128445334G>A | NCBI36 |
NG_023428.1:g.42130C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265388.10:c.234C>T MANE Select | ENSP00000265388.5:p.Leu78= | |
ENST00000265388.9:c.234C>T | ENSP00000265388.5:p.Leu78= | |
ENST00000471166.1:c.234C>T | ENSP00000418267.1:p.Leu78= | |
ENST00000471234.5:c.234C>T | ENSP00000418646.1:p.Leu78= | |
ENST00000482320.5:c.36C>T | ENSP00000420089.1:p.Leu12= | |
ENST00000627585.2:c.234C>T | ENSP00000487231.1:p.Leu78= | |
NM_001191028.2:c.234C>T | NP_001177957.2:p.Leu78= | |
NM_012470.3:c.234C>T | NP_036602.1:p.Leu78= | |
NR_034053.2:n.798C>T | ||
XM_011515989.1:c.36C>T | XP_011514291.1:p.Leu12= | |
NM_001191028.3:c.234C>T | NP_001177957.2:p.Leu78= | |
NM_001382216.1:c.234C>T | NP_001369145.1:p.Leu78= | |
NM_001382217.1:c.234C>T | NP_001369146.1:p.Leu78= | |
NM_001382218.1:c.234C>T | NP_001369147.1:p.Leu78= | |
NM_001382219.1:c.234C>T | NP_001369148.1:p.Leu78= | |
NM_001382220.1:c.234C>T | NP_001369149.1:p.Leu78= | |
NM_001382221.1:c.234C>T | NP_001369150.1:p.Leu78= | |
NM_001382222.1:c.234C>T | NP_001369151.1:p.Leu78= | |
NM_001382223.1:c.234C>T | NP_001369152.1:p.Leu78= | |
NM_012470.4:c.234C>T MANE Select | NP_036602.1:p.Leu78= | |
NR_034053.3:n.736C>T | ||
NR_167911.1:n.700C>T | ||
NR_167912.1:n.575C>T | ||
NR_167913.1:n.575C>T | ||
NR_167914.1:n.575C>T | ||
NR_167915.1:n.736C>T | ||
NR_167916.1:n.575C>T | ||
NR_167917.1:n.575C>T | ||
NR_167918.1:n.861C>T | ||
NR_167919.1:n.700C>T | ||
NR_167920.1:n.861C>T | ||
NR_167921.1:n.700C>T | ||
NR_167922.1:n.575C>T | ||
NR_167923.1:n.700C>T | ||
NR_167924.1:n.575C>T | ||
NR_167925.1:n.575C>T | ||
NR_167926.1:n.736C>T | ||
NR_167927.1:n.700C>T |