HGVS | Genome Assembly |
---|---|
NC_000022.11:g.41696415T>A , CM000684.2:g.41696415T>A | GRCh38 |
NC_000022.10:g.42092419T>A , CM000684.1:g.42092419T>A | GRCh37 |
NC_000022.9:g.40422365T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000472110.3:n.3381T>A | ||
ENST00000654032.1:n.3169T>A | ||
ENST00000656592.1:n.3293T>A | ||
ENST00000660688.1:n.938-364T>A | ||
ENST00000664954.1:n.2997T>A | ||
ENST00000668666.1:n.3254T>A | ||
ENST00000402966.1:c.*2437T>A | ENSP00000385467.1:n.*2437T>A | |
NM_001142964.1:c.*2437T>A | NP_001136436.1:n.*2437T>A | |
XM_011530373.1:c.*2474T>A | XP_011528675.1:n.*2474T>A | |
XM_011530373.3:c.*2474T>A | XP_011528675.1:n.*2474T>A | |
XM_017028939.1:c.-135T>A | XP_016884428.1:n.-135T>A | |
NR_160905.1:n.3295T>A |