HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30737180G>C , CM000678.2:g.30737180G>C | GRCh38 |
NC_000016.9:g.30748501G>C , CM000678.1:g.30748501G>C | GRCh37 |
NC_000016.8:g.30656002G>C | NCBI36 |
NG_032135.1:g.43040G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000411466.7:c.7140G>C | ENSP00000405186.3:p.Arg2380= | |
ENST00000704023.1:c.1420G>C | ||
ENST00000706321.1:c.7140G>C | ENSP00000516346.1:p.Arg2380= | |
ENST00000262518.9:c.7140G>C MANE Select | ENSP00000262518.4:p.Arg2380= | |
ENST00000262518.8:c.7140G>C | ENSP00000262518.4:p.Arg2380= | |
ENST00000380361.7:c.6609G>C | ENSP00000369719.3:p.Arg2203= | |
ENST00000395059.6:c.6363G>C | ENSP00000378499.3:p.Arg2121= | |
NM_006662.2:c.7140G>C | NP_006653.2:p.Arg2380= | |
NM_006662.3:c.7140G>C MANE Select | NP_006653.2:p.Arg2380= |