HGVS | Genome Assembly |
---|---|
NC_000004.12:g.183701783G>C , CM000666.2:g.183701783G>C | GRCh38 |
NC_000004.11:g.184622936G>C , CM000666.1:g.184622936G>C | GRCh37 |
NC_000004.10:g.184859930G>C | NCBI36 |
NG_033102.1:g.47517G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000334690.11:c.2938G>C MANE Select | ENSP00000335371.6:p.Gly980Arg | |
ENST00000334690.10:c.2938G>C | ENSP00000335371.6:p.Gly980Arg | |
ENST00000357207.8:c.2938G>C | ENSP00000349738.4:p.Gly980Arg | |
ENST00000505676.5:c.*1052G>C | ENSP00000422915.1:n.*1052G>C | |
ENST00000506426.1:n.124G>C | ||
ENST00000511955.5:n.931G>C | ||
ENST00000512476.1:c.1756G>C | ENSP00000421004.1:p.Gly586Arg | |
NM_021942.5:c.2938G>C | NP_068761.4:p.Gly980Arg | |
NM_199053.2:c.2938G>C | NP_951008.1:p.Gly980Arg | |
XM_011532180.1:c.2938G>C | XP_011530482.1:p.Gly980Arg | |
XM_017008537.2:c.2938G>C | XP_016864026.1:p.Gly980Arg | |
XM_024454179.1:c.2938G>C | XP_024309947.1:p.Gly980Arg | |
XM_024454180.1:c.2938G>C | XP_024309948.1:p.Gly980Arg | |
XM_024454181.1:c.1588G>C | XP_024309949.1:p.Gly530Arg | |
XR_001741315.2:n.3130G>C | ||
NM_021942.6:c.2938G>C MANE Select | NP_068761.4:p.Gly980Arg | |
NM_199053.3:c.2938G>C | NP_951008.1:p.Gly980Arg |