HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107710251C>A , CM000669.2:g.107710251C>A | GRCh38 |
NC_000007.13:g.107350696C>A , CM000669.1:g.107350696C>A | GRCh37 |
NC_000007.12:g.107137932C>A | NCBI36 |
NG_008489.1:g.54617C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.2235+52C>A MANE Select | ENSP00000494017.1:n.2235+52C>A | |
ENST00000644846.1:c.891+52C>A | ||
ENST00000265715.7:c.2235+52C>A | ENSP00000265715.3:n.2235+52C>A | |
ENST00000492030.2:n.421+52C>A | ||
NM_000441.1:c.2235+52C>A | NP_000432.1:n.2235+52C>A | |
XM_005250425.1:c.2235+52C>A | XP_005250482.1:n.2235+52C>A | |
XM_005250425.2:c.2235+52C>A | XP_005250482.1:n.2235+52C>A | |
XM_017012318.1:c.2157+52C>A | XP_016867807.1:n.2157+52C>A | |
NM_000441.2:c.2235+52C>A MANE Select | NP_000432.1:n.2235+52C>A |