HGVS | Genome Assembly |
---|---|
NC_000008.11:g.17604014G>A , CM000670.2:g.17604014G>A | GRCh38 |
NC_000008.10:g.17461523G>A , CM000670.1:g.17461523G>A | GRCh37 |
NC_000008.9:g.17505800G>A | NCBI36 |
NG_023332.1:g.32582G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251630.11:c.353+14249G>A MANE Select | ENSP00000251630.4:n.353+14249G>A | |
ENST00000673645.1:c.353+14249G>A | ENSP00000501219.1:n.353+14249G>A | |
ENST00000251630.10:c.353+14249G>A | ENSP00000251630.4:n.353+14249G>A | |
ENST00000541323.1:c.353+14249G>A | ENSP00000444211.1:n.353+14249G>A | |
NM_006207.2:c.353+14249G>A | NP_006198.1:n.353+14249G>A | |
XM_011544558.1:c.353+14249G>A | XP_011542860.1:n.353+14249G>A | |
NM_001372073.1:c.353+14249G>A MANE Select | NP_001359002.1:n.353+14249G>A |