HGVS | Genome Assembly |
---|---|
NC_000009.12:g.5468205G>T , CM000671.2:g.5468205G>T | GRCh38 |
NC_000009.11:g.5468205G>T , CM000671.1:g.5468205G>T | GRCh37 |
NC_000009.10:g.5458205G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381577.4:c.*343G>T MANE Select | ENSP00000370989.3:n.*343G>T | |
ENST00000381573.8:c.*343G>T | ENSP00000370985.4:n.*343G>T | |
ENST00000381577.3:c.*343G>T | ENSP00000370989.3:n.*343G>T | |
NM_001267706.1:c.*343G>T | NP_001254635.1:n.*343G>T | |
NM_014143.3:c.*343G>T | NP_054862.1:n.*343G>T | |
NR_052005.1:n.1151G>T | ||
NM_014143.4:c.*343G>T MANE Select | NP_054862.1:n.*343G>T | |
NR_052005.2:n.1112G>T | ||
NM_001267706.2:c.*343G>T | NP_001254635.1:n.*343G>T |