HGVS | Genome Assembly |
---|---|
NC_000021.9:g.40845029C>T , CM000683.2:g.40845029C>T | GRCh38 |
NC_000021.8:g.42216955C>T , CM000683.1:g.42216955C>T | GRCh37 |
NC_000021.7:g.41138825C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400454.6:c.43+1590G>A MANE Select | ENSP00000383303.1:n.43+1590G>A | |
ENST00000400454.5:c.43+1590G>A | ENSP00000383303.1:n.43+1590G>A | |
NM_001271534.1:c.43+1590G>A | NP_001258463.1:n.43+1590G>A | |
NM_001389.3:c.43+1590G>A | NP_001380.2:n.43+1590G>A | |
NR_073202.1:n.495+1590G>A | ||
XM_011529480.1:c.55+1578G>A | XP_011527782.1:n.55+1578G>A | |
NM_001271534.2:c.43+1590G>A | NP_001258463.1:n.43+1590G>A | |
NM_001389.4:c.43+1590G>A | NP_001380.2:n.43+1590G>A | |
NR_073202.2:n.521+1590G>A | ||
NM_001389.5:c.43+1590G>A MANE Select | NP_001380.2:n.43+1590G>A | |
NM_001271534.3:c.43+1590G>A | NP_001258463.1:n.43+1590G>A | |
NR_073202.3:n.540+1590G>A |