HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107715354A>T , CM000669.2:g.107715354A>T | GRCh38 |
NC_000007.13:g.107355799A>T , CM000669.1:g.107355799A>T | GRCh37 |
NC_000007.12:g.107143035A>T | NCBI36 |
NG_008489.1:g.59720A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.2320-69A>T MANE Select | ENSP00000494017.1:n.2320-69A>T | |
ENST00000644846.1:c.976-69A>T | ||
ENST00000265715.7:c.2320-69A>T | ENSP00000265715.3:n.2320-69A>T | |
ENST00000492030.2:n.506-69A>T | ||
NM_000441.1:c.2320-69A>T | NP_000432.1:n.2320-69A>T | |
XM_005250425.1:c.2320-69A>T | XP_005250482.1:n.2320-69A>T | |
XM_005250425.2:c.2320-69A>T | XP_005250482.1:n.2320-69A>T | |
XM_017012318.1:c.2242-69A>T | XP_016867807.1:n.2242-69A>T | |
NM_000441.2:c.2320-69A>T MANE Select | NP_000432.1:n.2320-69A>T |