HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8733975C>A , CM000665.2:g.8733975C>A | GRCh38 |
NC_000003.11:g.8775661C>A , CM000665.1:g.8775661C>A | GRCh37 |
NC_000003.10:g.8750661C>A | NCBI36 |
NG_008797.2:g.5166C>A , LRG_329:g.5166C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343849.3:c.99C>A (CAV3) MANE Select | ENSP00000341940.2:p.Asn33Lys | |
ENST00000343849.2:c.99C>A (CAV3) | ENSP00000341940.2:p.Asn33Lys | |
ENST00000397368.2:c.99C>A (CAV3) | ENSP00000380525.2:p.Asn33Lys | |
ENST00000435138.5:c.64+8484G>T (SSUH2) | ENSP00000412333.1:n.64+8484G>T | |
ENST00000472766.1:n.140C>A (CAV3) | ||
ENST00000478513.1:n.335+8484G>T (SSUH2) | ||
NM_001234.4:c.99C>A (CAV3) | NP_001225.1:p.Asn33Lys | |
NM_033337.2:c.99C>A , LRG_329t1:c.99C>A (CAV3) | NP_203123.1:p.Asn33Lys | |
XR_940435.1:n.330+8484G>T (SSUH2) | ||
XM_017006530.1:c.-283+8484G>T (SSUH2) | XP_016862019.1:n.-283+8484G>T | |
NM_001234.5:c.99C>A (CAV3) | NP_001225.1:p.Asn33Lys | |
NM_033337.3:c.99C>A (CAV3) MANE Select | NP_203123.1:p.Asn33Lys |