HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23429179T>G , CM000676.2:g.23429179T>G | GRCh38 |
NC_000014.8:g.23898388T>G , CM000676.1:g.23898388T>G | GRCh37 |
NC_000014.7:g.22968228T>G | NCBI36 |
NG_007884.1:g.11483A>C , LRG_384:g.11483A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.1257+50A>C MANE Select | ENSP00000347507.3:n.1257+50A>C | |
ENST00000355349.3:c.1257+50A>C | ENSP00000347507.3:n.1257+50A>C | |
NM_000257.3:c.1257+50A>C | NP_000248.2:n.1257+50A>C | |
XR_245686.3:n.1363+50A>C | ||
XM_017021340.1:c.1257+50A>C | XP_016876829.1:n.1257+50A>C | |
NM_000257.4:c.1257+50A>C MANE Select | NP_000248.2:n.1257+50A>C |