HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132679140G>A , CM000667.2:g.132679140G>A | GRCh38 |
NC_000005.9:g.132014832G>A , CM000667.1:g.132014832G>A | GRCh37 |
NC_000005.8:g.132042731G>A | NCBI36 |
NG_023252.1:g.10460G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231449.7:c.184-574G>A MANE Select | ENSP00000231449.2:n.184-574G>A | |
ENST00000231449.6:c.184-574G>A | ENSP00000231449.2:n.184-574G>A | |
ENST00000350025.2:c.136-574G>A | ENSP00000325190.3:n.136-574G>A | |
ENST00000495905.1:n.150-574G>A | ||
ENST00000622422.1:c.285-574G>A | ENSP00000480581.1:n.285-574G>A | |
NM_000589.3:c.184-574G>A | NP_000580.1:n.184-574G>A | |
NM_172348.2:c.136-574G>A | NP_758858.1:n.136-574G>A | |
NM_001354990.1:c.285-574G>A | NP_001341919.1:n.285-574G>A | |
NR_134248.1:n.1153C>T | ||
NM_000589.4:c.184-574G>A MANE Select | NP_000580.1:n.184-574G>A | |
NM_172348.3:c.136-574G>A | NP_758858.1:n.136-574G>A | |
NM_001354990.2:c.285-574G>A | NP_001341919.1:n.285-574G>A |