HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423428T>C , CM000676.2:g.23423428T>C | GRCh38 |
NC_000014.8:g.23892637T>C , CM000676.1:g.23892637T>C | GRCh37 |
NC_000014.7:g.22962477T>C | NCBI36 |
NG_007884.1:g.17234A>G , LRG_384:g.17234A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+119A>G MANE Select | ENSP00000347507.3:n.3099+119A>G | |
ENST00000355349.3:c.3099+119A>G | ENSP00000347507.3:n.3099+119A>G | |
NM_000257.3:c.3099+119A>G | NP_000248.2:n.3099+119A>G | |
XR_245686.3:n.3205+119A>G | ||
XM_017021340.1:c.3099+119A>G | XP_016876829.1:n.3099+119A>G | |
NM_000257.4:c.3099+119A>G MANE Select | NP_000248.2:n.3099+119A>G |