HGVS | Genome Assembly |
---|---|
NC_000006.12:g.159677150A>T , CM000668.2:g.159677150A>T | GRCh38 |
NC_000006.11:g.160098182A>T , CM000668.1:g.160098182A>T | GRCh37 |
NC_000006.10:g.160018172A>T | NCBI36 |
NG_008729.1:g.21172T>A | |
NG_008729.3:g.90380T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000538183.7:c.*5343T>A MANE Select | ENSP00000446252.1:n.*5343T>A | |
ENST00000538183.6:c.*5343T>A | ENSP00000446252.1:n.*5343T>A | |
NM_000636.4:c.*5343T>A MANE Select | NP_000627.2:n.*5343T>A | |
NM_001322814.2:c.*5343T>A | NP_001309743.1:n.*5343T>A | |
NM_001322815.2:c.*5343T>A | NP_001309744.1:n.*5343T>A | |
NM_001322819.2:c.*5343T>A | NP_001309748.1:n.*5343T>A | |
NM_001322820.2:c.*5343T>A | NP_001309749.1:n.*5343T>A |