HGVS | Genome Assembly |
---|---|
NC_000007.14:g.96191152A>G , CM000669.2:g.96191152A>G | GRCh38 |
NC_000007.13:g.95820464A>G , CM000669.1:g.95820464A>G | GRCh37 |
NC_000007.12:g.95658400A>G | NCBI36 |
NG_012247.1:g.135996T>C | |
NG_012247.2:g.135996T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265631.10:c.711T>C MANE Select | ENSP00000265631.6:p.Tyr237= | |
ENST00000265631.9:c.711T>C | ENSP00000265631.5:p.Tyr237= | |
ENST00000416240.6:c.711T>C | ENSP00000400101.2:p.Tyr237= | |
NM_001160210.1:c.711T>C | NP_001153682.1:p.Tyr237= | |
NM_014251.2:c.711T>C | NP_055066.1:p.Tyr237= | |
NR_027662.1:n.786T>C | ||
XM_006715831.2:c.744T>C | XP_006715894.1:p.Tyr248= | |
XM_011515727.1:c.744T>C | XP_011514029.1:p.Tyr248= | |
XM_011515728.1:c.-48T>C | XP_011514030.1:n.-48T>C | |
XM_006715831.4:c.744T>C | XP_006715894.1:p.Tyr248= | |
XM_011515727.3:c.744T>C | XP_011514029.1:p.Tyr248= | |
XM_017011663.1:c.702T>C | XP_016867152.1:p.Tyr234= | |
XM_017011664.2:c.-48T>C | XP_016867153.1:n.-48T>C | |
XM_017011665.1:c.-48T>C | XP_016867154.1:n.-48T>C | |
XR_001744525.2:n.882T>C | ||
XR_002956405.1:n.1024T>C | ||
NM_014251.3:c.711T>C MANE Select | NP_055066.1:p.Tyr237= | |
NR_027662.2:n.737T>C | ||
NM_001160210.2:c.711T>C | NP_001153682.1:p.Tyr237= |