HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23424463C>A , CM000676.2:g.23424463C>A | GRCh38 |
NC_000014.8:g.23893672C>A , CM000676.1:g.23893672C>A | GRCh37 |
NC_000014.7:g.22963512C>A | NCBI36 |
NG_007884.1:g.16199G>T , LRG_384:g.16199G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.2679+306G>T MANE Select | ENSP00000347507.3:n.2679+306G>T | |
ENST00000355349.3:c.2679+306G>T | ENSP00000347507.3:n.2679+306G>T | |
NM_000257.3:c.2679+306G>T | NP_000248.2:n.2679+306G>T | |
XR_245686.3:n.2785+306G>T | ||
XM_017021340.1:c.2679+306G>T | XP_016876829.1:n.2679+306G>T | |
NM_000257.4:c.2679+306G>T MANE Select | NP_000248.2:n.2679+306G>T |