HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215671351A>C , CM000663.2:g.215671351A>C | GRCh38 |
NC_000001.10:g.215844693A>C , CM000663.1:g.215844693A>C | GRCh37 |
NC_000001.9:g.213911316A>C | NCBI36 |
NG_009497.1:g.757046T>G | |
NG_009497.2:g.757098T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.13812-58T>G MANE Select | ENSP00000305941.3:n.13812-58T>G | |
ENST00000674083.1:c.13812-58T>G | ENSP00000501296.1:n.13812-58T>G | |
ENST00000307340.7:c.13812-58T>G | ENSP00000305941.3:n.13812-58T>G | |
NM_206933.2:c.13812-58T>G | NP_996816.2:n.13812-58T>G | |
NM_206933.3:c.13812-58T>G | NP_996816.2:n.13812-58T>G | |
NM_206933.4:c.13812-58T>G MANE Select | NP_996816.3:n.13812-58T>G |