HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30737170G>C , CM000678.2:g.30737170G>C | GRCh38 |
NC_000016.9:g.30748491G>C , CM000678.1:g.30748491G>C | GRCh37 |
NC_000016.8:g.30655992G>C | NCBI36 |
NG_032135.1:g.43030G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000411466.7:c.7130G>C | ENSP00000405186.3:p.Gly2377Ala | |
ENST00000704023.1:c.1410G>C | ||
ENST00000706321.1:c.7130G>C | ENSP00000516346.1:p.Gly2377Ala | |
ENST00000262518.9:c.7130G>C MANE Select | ENSP00000262518.4:p.Gly2377Ala | |
ENST00000262518.8:c.7130G>C | ENSP00000262518.4:p.Gly2377Ala | |
ENST00000380361.7:c.6599G>C | ENSP00000369719.3:p.Gly2200Ala | |
ENST00000395059.6:c.6353G>C | ENSP00000378499.3:p.Gly2118Ala | |
NM_006662.2:c.7130G>C | NP_006653.2:p.Gly2377Ala | |
NM_006662.3:c.7130G>C MANE Select | NP_006653.2:p.Gly2377Ala |