HGVS | Genome Assembly |
---|---|
NC_000005.10:g.35875491A>T , CM000667.2:g.35875491A>T | GRCh38 |
NC_000005.9:g.35875593A>T , CM000667.1:g.35875593A>T | GRCh37 |
NC_000005.8:g.35911350A>T | NCBI36 |
NG_009567.1:g.23603A>T , LRG_74:g.23603A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303115.8:c.801-21A>T MANE Select | ENSP00000306157.3:n.801-21A>T | |
ENST00000303115.7:c.801-21A>T | ENSP00000306157.3:n.801-21A>T | |
ENST00000505093.1:c.116-21A>T | ENSP00000426069.1:n.116-21A>T | |
ENST00000505875.1:n.78A>T | ||
ENST00000506850.5:c.707-21A>T | ENSP00000421207.1:n.707-21A>T | |
ENST00000509668.1:n.543-21A>T | ||
ENST00000514217.5:c.538-21A>T | ENSP00000427688.1:n.538-21A>T | |
NM_002185.3:c.801-21A>T | NP_002176.2:n.801-21A>T | |
NR_120485.1:n.641-21A>T | ||
XM_005248299.2:c.707-21A>T | XP_005248356.1:n.707-21A>T | |
XM_005248300.1:c.707-21A>T | XP_005248357.1:n.707-21A>T | |
XM_011514037.1:c.800-19A>T | XP_011512339.1:n.800-19A>T | |
NM_002185.4:c.801-21A>T | NP_002176.2:n.801-21A>T | |
NR_120485.2:n.667-21A>T | ||
XM_005248299.4:c.707-21A>T | XP_005248356.1:n.707-21A>T | |
NM_002185.5:c.801-21A>T MANE Select | NP_002176.2:n.801-21A>T | |
NR_120485.3:n.625-21A>T |