HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31622683T>C , CM000668.2:g.31622683T>C | GRCh38 |
NC_000006.11:g.31590460T>C , CM000668.1:g.31590460T>C | GRCh37 |
NC_000006.10:g.31698439T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376033.3:c.-100-7T>C MANE Select | ENSP00000365201.2:n.-100-7T>C | |
ENST00000376007.8:c.-63-44T>C | ENSP00000365175.4:n.-63-44T>C | |
ENST00000376033.2:c.-100-7T>C | ENSP00000365201.2:n.-100-7T>C | |
ENST00000469577.5:n.136-1578T>C | ||
NM_004638.3:c.-100-7T>C | NP_004629.3:n.-100-7T>C | |
NM_080686.2:c.-63-44T>C | NP_542417.2:n.-63-44T>C | |
XM_011514890.1:c.-63-44T>C | XP_011513192.1:n.-63-44T>C | |
NM_004638.4:c.-100-7T>C MANE Select | NP_004629.3:n.-100-7T>C | |
NM_080686.3:c.-63-44T>C | NP_542417.2:n.-63-44T>C |