HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107698070C>A , CM000669.2:g.107698070C>A | GRCh38 |
NC_000007.13:g.107338515C>A , CM000669.1:g.107338515C>A | GRCh37 |
NC_000007.12:g.107125751C>A | NCBI36 |
NG_008489.1:g.42436C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.1573C>A MANE Select | ENSP00000494017.1:p.Pro525Thr | |
ENST00000644846.1:c.284C>A | ||
ENST00000265715.7:c.1573C>A | ENSP00000265715.3:p.Pro525Thr | |
ENST00000477350.5:n.420C>A | ||
ENST00000480841.5:n.422C>A | ||
NM_000441.1:c.1573C>A | NP_000432.1:p.Pro525Thr | |
XM_005250425.1:c.1573C>A | XP_005250482.1:p.Pro525Thr | |
XM_005250425.2:c.1573C>A | XP_005250482.1:p.Pro525Thr | |
XM_017012318.1:c.1495C>A | XP_016867807.1:p.Pro499Thr | |
NM_000441.2:c.1573C>A MANE Select | NP_000432.1:p.Pro525Thr |