HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372383T>C , CM000679.2:g.44372383T>C | GRCh38 |
NC_000017.10:g.42449751T>C , CM000679.1:g.42449751T>C | GRCh37 |
NC_000017.9:g.39805277T>C | NCBI36 |
NG_008331.1:g.22123A>G , LRG_479:g.22123A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3101A>G MANE Select | ENSP00000262407.5:p.Asp1034Gly | |
ENST00000648408.1:c.2415A>G | ||
ENST00000262407.5:c.3101A>G | ENSP00000262407.5:p.Asp1034Gly | |
ENST00000587295.5:c.294A>G | ||
ENST00000588098.1:c.78A>G | ||
NM_000419.3:c.3101A>G , LRG_479t1:c.3101A>G | NP_000410.2:p.Asp1034Gly | |
XM_011524749.1:c.2999A>G | XP_011523051.1:p.Asp1000Gly | |
XM_011524750.1:c.2984A>G | XP_011523052.1:p.Asp995Gly | |
NM_000419.4:c.3101A>G | NP_000410.2:p.Asp1034Gly | |
NM_000419.5:c.3101A>G MANE Select | NP_000410.2:p.Asp1034Gly |