HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240630275C>G , CM000664.2:g.240630275C>G | GRCh38 |
NC_000002.11:g.241569692C>G , CM000664.1:g.241569692C>G | GRCh37 |
NC_000002.10:g.241218365C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000407714.2:c.323C>G MANE Select | ENSP00000384263.1:p.Thr108Arg | |
ENST00000319838.10:c.323C>G | ENSP00000322731.5:p.Thr108Arg | |
ENST00000319838.9:c.323C>G | ENSP00000322731.5:p.Thr108Arg | |
ENST00000403859.1:c.323C>G | ENSP00000385140.1:p.Thr108Arg | |
ENST00000407714.1:c.323C>G | ENSP00000384263.1:p.Thr108Arg | |
ENST00000430267.2:c.416C>G | ENSP00000411788.2:p.Thr139Arg | |
ENST00000438013.3:c.323C>G | ENSP00000415890.3:p.Thr108Arg | |
NM_001195381.1:c.416C>G | NP_001182310.1:p.Thr139Arg | |
NM_001195382.1:c.416C>G | NP_001182311.1:p.Thr139Arg | |
NM_005301.3:c.323C>G | NP_005292.2:p.Thr108Arg | |
NM_001195381.2:c.416C>G | NP_001182310.1:p.Thr139Arg | |
NM_001195382.2:c.416C>G | NP_001182311.1:p.Thr139Arg | |
NM_005301.4:c.323C>G | NP_005292.2:p.Thr108Arg | |
NM_001195381.3:c.416C>G | NP_001182310.1:p.Thr139Arg | |
NM_001195382.3:c.416C>G | NP_001182311.1:p.Thr139Arg | |
NM_001394730.1:c.416C>G | NP_001381659.1:p.Thr139Arg | |
NM_005301.5:c.323C>G MANE Select | NP_005292.2:p.Thr108Arg |