HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32202920T>A , CM000668.2:g.32202920T>A | GRCh38 |
NC_000006.11:g.32170697T>A , CM000668.1:g.32170697T>A | GRCh37 |
NC_000006.10:g.32278675T>A | NCBI36 |
NG_028190.1:g.26148A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.3232-321A>T MANE Select | ENSP00000364163.3:n.3232-321A>T | |
ENST00000474612.1:n.997A>T | ||
NM_004557.3:c.3232-321A>T | NP_004548.3:n.3232-321A>T | |
NR_134949.1:n.3472+850A>T | ||
NR_134950.1:n.3370+850A>T | ||
NM_004557.4:c.3232-321A>T MANE Select | NP_004548.3:n.3232-321A>T | |
NR_134949.2:n.3472+850A>T | ||
NR_134950.2:n.3370+850A>T |