HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30737290C>T , CM000678.2:g.30737290C>T | GRCh38 |
NC_000016.9:g.30748611C>T , CM000678.1:g.30748611C>T | GRCh37 |
NC_000016.8:g.30656112C>T | NCBI36 |
NG_032135.1:g.43150C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000411466.7:c.7250C>T | ENSP00000405186.3:p.Ala2417Val | |
ENST00000704023.1:c.1530C>T | ||
ENST00000706321.1:c.7250C>T | ENSP00000516346.1:p.Ala2417Val | |
ENST00000262518.9:c.7250C>T MANE Select | ENSP00000262518.4:p.Ala2417Val | |
ENST00000262518.8:c.7250C>T | ENSP00000262518.4:p.Ala2417Val | |
ENST00000380361.7:c.6719C>T | ENSP00000369719.3:p.Ala2240Val | |
ENST00000395059.6:c.6473C>T | ENSP00000378499.3:p.Ala2158Val | |
NM_006662.2:c.7250C>T | NP_006653.2:p.Ala2417Val | |
NM_006662.3:c.7250C>T MANE Select | NP_006653.2:p.Ala2417Val |