HGVS | Genome Assembly |
---|---|
NC_000008.11:g.63073090T>C , CM000670.2:g.63073090T>C | GRCh38 |
NC_000008.10:g.63985649T>C , CM000670.1:g.63985649T>C | GRCh37 |
NC_000008.9:g.64148203T>C | NCBI36 |
NG_016123.1:g.17964A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260116.5:c.205-2A>G MANE Select | ENSP00000260116.4:n.205-2A>G | |
ENST00000260116.4:c.205-2A>G | ENSP00000260116.4:n.205-2A>G | |
ENST00000521138.1:n.232+12728A>G | ||
NM_000370.3:c.205-2A>G MANE Select | NP_000361.1:n.205-2A>G | |
XM_006716468.2:c.205-8774A>G | XP_006716531.1:n.205-8774A>G | |
XM_006716468.4:c.205-8774A>G | XP_006716531.1:n.205-8774A>G |