HGVS | Genome Assembly |
---|---|
NC_000003.12:g.71784823G>C , CM000665.2:g.71784823G>C | GRCh38 |
NC_000003.11:g.71833974G>C , CM000665.1:g.71833974G>C | GRCh37 |
NC_000003.10:g.71916664G>C | NCBI36 |
NG_008275.1:g.5384C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295619.4:c.96+134C>G MANE Select | ENSP00000295619.3:n.96+134C>G | |
ENST00000295619.3:c.96+134C>G | ENSP00000295619.3:n.96+134C>G | |
ENST00000353065.7:c.96+134C>G | ENSP00000295618.3:n.96+134C>G | |
NM_001126128.1:c.96+134C>G | NP_001119600.1:n.96+134C>G | |
NM_021935.3:c.96+134C>G | NP_068754.1:n.96+134C>G | |
NM_001126128.2:c.96+134C>G MANE Select | NP_001119600.1:n.96+134C>G | |
NM_021935.4:c.96+134C>G | NP_068754.1:n.96+134C>G |