HGVS | Genome Assembly |
---|---|
NC_000004.12:g.5640830A>G , CM000666.2:g.5640830A>G | GRCh38 |
NC_000004.11:g.5642557A>G , CM000666.1:g.5642557A>G | GRCh37 |
NC_000004.10:g.5693458A>G | NCBI36 |
NG_015821.1:g.73719T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344408.10:c.1154T>C MANE Select | ENSP00000342144.5:p.Ile385Thr | |
ENST00000310917.6:c.914T>C | ENSP00000311683.2:p.Ile305Thr | |
ENST00000344408.9:c.1154T>C | ENSP00000342144.5:p.Ile385Thr | |
ENST00000475313.5:c.914T>C | ENSP00000431981.1:p.Ile305Thr | |
ENST00000509670.1:c.914T>C | ENSP00000423876.1:p.Ile305Thr | |
NM_001166136.1:c.914T>C | NP_001159608.1:p.Ile305Thr | |
NM_147127.4:c.1154T>C | NP_667338.3:p.Ile385Thr | |
XM_011513392.1:c.1154T>C | XP_011511694.1:p.Ile385Thr | |
XM_011513393.1:c.1154T>C | XP_011511695.1:p.Ile385Thr | |
XM_011513394.1:c.914T>C | XP_011511696.1:p.Ile305Thr | |
XM_017007736.1:c.914T>C | XP_016863225.1:p.Ile305Thr | |
XM_017007737.1:c.914T>C | XP_016863226.1:p.Ile305Thr | |
XM_017007738.1:c.1154T>C | XP_016863227.1:p.Ile385Thr | |
XM_017007739.1:c.-519T>C | XP_016863228.1:n.-519T>C | |
XM_024453893.1:c.-623T>C | XP_024309661.1:n.-623T>C | |
XR_001741141.1:n.1219T>C | ||
NM_147127.5:c.1154T>C MANE Select | NP_667338.3:p.Ile385Thr | |
NM_001166136.2:c.914T>C | NP_001159608.1:p.Ile305Thr |