HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116783719C>T , CM000673.2:g.116783719C>T | GRCh38 |
NC_000011.9:g.116654435C>T , CM000673.1:g.116654435C>T | GRCh37 |
NC_000011.8:g.116159645C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227322.8:c.892-100G>A MANE Select | ENSP00000227322.3:n.892-100G>A | |
ENST00000227322.7:c.892-100G>A | ENSP00000227322.3:n.892-100G>A | |
ENST00000429220.5:c.671-100G>A | ||
ENST00000444935.5:c.891-100G>A | ||
ENST00000449430.1:c.404-100G>A | ENSP00000415505.1:n.404-100G>A | |
NM_003904.3:c.892-100G>A | NP_003895.1:n.892-100G>A | |
NM_001317086.1:c.730-100G>A | NP_001304015.1:n.730-100G>A | |
NM_003904.4:c.892-100G>A | NP_003895.1:n.892-100G>A | |
XR_001748023.2:n.2220-100G>A | ||
NM_003904.5:c.892-100G>A MANE Select | NP_003895.1:n.892-100G>A | |
NM_001317086.2:c.730-100G>A | NP_001304015.1:n.730-100G>A |