HGVS | Genome Assembly |
---|---|
NC_000007.14:g.5603196T>C , CM000669.2:g.5603196T>C | GRCh38 |
NC_000007.13:g.5642827T>C , CM000669.1:g.5642827T>C | GRCh37 |
NC_000007.12:g.5609353T>C | NCBI36 |
NG_030004.1:g.15392T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382361.8:c.833-61T>C MANE Select | ENSP00000371798.3:n.833-61T>C | |
ENST00000382361.7:c.833-61T>C | ENSP00000371798.3:n.833-61T>C | |
ENST00000405801.2:c.-2-61T>C | ENSP00000383982.2:n.-2-61T>C | |
ENST00000444748.5:c.-2-61T>C | ENSP00000404506.1:n.-2-61T>C | |
ENST00000447103.5:c.-2-61T>C | ENSP00000409967.1:n.-2-61T>C | |
ENST00000473330.1:n.325T>C | ||
NM_003088.3:c.833-61T>C | NP_003079.1:n.833-61T>C | |
NM_003088.4:c.833-61T>C MANE Select | NP_003079.1:n.833-61T>C |