HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49130748G>A , CM000665.2:g.49130748G>A | GRCh38 |
NC_000003.11:g.49168181G>A , CM000665.1:g.49168181G>A | GRCh37 |
NC_000003.10:g.49143185G>A | NCBI36 |
NG_008094.1:g.7419C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.1028C>T MANE Select | ENSP00000307156.4:p.Ala343Val | |
ENST00000305544.8:c.1028C>T | ENSP00000307156.4:p.Ala343Val | |
ENST00000418109.5:c.1028C>T | ENSP00000388325.1:p.Ala343Val | |
NM_002292.3:c.1028C>T | NP_002283.3:p.Ala343Val | |
XM_005265127.3:c.1028C>T | XP_005265184.1:p.Ala343Val | |
XM_005265127.4:c.1028C>T | XP_005265184.1:p.Ala343Val | |
NM_002292.4:c.1028C>T MANE Select | NP_002283.3:p.Ala343Val |