HGVS | Genome Assembly |
---|---|
NC_000001.11:g.25543703A>C , CM000663.2:g.25543703A>C | GRCh38 |
NC_000001.10:g.25870194A>C , CM000663.1:g.25870194A>C | GRCh37 |
NC_000001.9:g.25742781A>C | NCBI36 |
NG_008932.1:g.5119A>C , LRG_276:g.5119A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374338.5:c.5A>C MANE Select | ENSP00000363458.4:p.Asp2Ala | |
ENST00000374338.4:c.5A>C | ENSP00000363458.4:p.Asp2Ala | |
NM_015627.2:c.5A>C , LRG_276t1:c.5A>C | NP_056442.2:p.Asp2Ala | |
XM_006710559.2:c.5A>C | XP_006710622.1:p.Asp2Ala | |
XM_006710560.2:c.5A>C | XP_006710623.1:p.Asp2Ala | |
XM_006710561.2:c.5A>C | XP_006710624.1:p.Asp2Ala | |
XM_011541209.1:c.5A>C | XP_011539511.1:p.Asp2Ala | |
XM_011541210.1:c.5A>C | XP_011539512.1:p.Asp2Ala | |
XM_011541211.1:c.5A>C | XP_011539513.1:p.Asp2Ala | |
XM_011541212.1:c.5A>C | XP_011539514.1:p.Asp2Ala | |
XR_426598.2:n.124A>C | ||
XR_946602.1:n.124A>C | ||
XR_946603.1:n.124A>C | ||
XM_006710559.4:c.5A>C | XP_006710622.1:p.Asp2Ala | |
XM_006710560.4:c.5A>C | XP_006710623.1:p.Asp2Ala | |
XM_006710561.4:c.5A>C | XP_006710624.1:p.Asp2Ala | |
XM_011541209.3:c.5A>C | XP_011539511.1:p.Asp2Ala | |
XM_011541210.3:c.5A>C | XP_011539512.1:p.Asp2Ala | |
XM_011541211.3:c.5A>C | XP_011539513.1:p.Asp2Ala | |
XM_011541212.3:c.5A>C | XP_011539514.1:p.Asp2Ala | |
XM_017000995.2:c.5A>C | XP_016856484.1:p.Asp2Ala | |
XR_001737112.2:n.75A>C | ||
XR_001737113.2:n.75A>C | ||
XR_002956258.1:n.75A>C | ||
XR_426598.4:n.75A>C | ||
XR_946602.3:n.75A>C | ||
XR_946603.3:n.75A>C | ||
NM_015627.3:c.5A>C MANE Select | NP_056442.2:p.Asp2Ala |