Linked Data
ClinVar Variation Id:
842262
dbSNP Id:
rs1440854109
gnomAD v2:
X-76829818-C-T
gnomAD v4:
X-77574353-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77574353C>T , CM000685.2:g.77574353C>T | GRCh38 |
| NC_000023.10:g.76829818C>T , CM000685.1:g.76829818C>T | GRCh37 |
| NC_000023.9:g.76716474C>T | NCBI36 |
| NG_008838.2:g.216869G>A | |
| NG_008838.3:g.216917G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6223G>A MANE Select | ENSP00000362441.4:p.Gly2075Arg | |
| ENST00000636152.1:n.58G>A | ||
| ENST00000675732.1:c.1321G>A | ENSP00000502598.1:p.Gly441Arg | |
| ENST00000373344.9:c.6223G>A | ENSP00000362441.4:p.Gly2075Arg | |
| ENST00000395603.7:c.6109G>A | ENSP00000378967.3:p.Gly2037Arg | |
| ENST00000480283.5:c.*5851G>A | ENSP00000480196.1:n.*5851G>A | |
| ENST00000623316.1:c.707G>A | ||
| ENST00000623706.3:n.3293G>A | ||
| NM_000489.4:c.6223G>A | NP_000480.3:p.Gly2075Arg | |
| NM_138270.3:c.6109G>A | NP_612114.2:p.Gly2037Arg | |
| XM_005262153.3:c.6220G>A | XP_005262210.2:p.Gly2074Arg | |
| XM_005262154.3:c.6136G>A | XP_005262211.2:p.Gly2046Arg | |
| XM_005262155.3:c.6106G>A | XP_005262212.2:p.Gly2036Arg | |
| XM_005262156.3:c.6058G>A | XP_005262213.2:p.Gly2020Arg | |
| XM_005262157.3:c.6019G>A | XP_005262214.2:p.Gly2007Arg | |
| XM_006724666.2:c.6106G>A | XP_006724729.1:p.Gly2036Arg | |
| XM_006724667.2:c.5944G>A | XP_006724730.1:p.Gly1982Arg | |
| XR_938400.1:n.6565G>A | ||
| NM_000489.5:c.6223G>A | NP_000480.3:p.Gly2075Arg | |
| XM_005262153.5:c.6220G>A | XP_005262210.2:p.Gly2074Arg | |
| XM_005262154.5:c.6136G>A | XP_005262211.2:p.Gly2046Arg | |
| XM_005262155.4:c.6106G>A | XP_005262212.2:p.Gly2036Arg | |
| XM_005262156.4:c.6058G>A | XP_005262213.2:p.Gly2020Arg | |
| XM_005262157.5:c.6019G>A | XP_005262214.2:p.Gly2007Arg | |
| XM_006724666.4:c.6106G>A | XP_006724729.1:p.Gly2036Arg | |
| XM_006724667.3:c.5944G>A | XP_006724730.1:p.Gly1982Arg | |
| XM_017029601.2:c.6133G>A | XP_016885090.1:p.Gly2045Arg | |
| XM_017029602.1:c.6103G>A | XP_016885091.1:p.Gly2035Arg | |
| XM_017029603.1:c.6055G>A | XP_016885092.1:p.Gly2019Arg | |
| XM_017029604.2:c.6022G>A | XP_016885093.1:p.Gly2008Arg | |
| XM_017029605.1:c.6019G>A | XP_016885094.1:p.Gly2007Arg | |
| XM_017029606.2:c.5992G>A | XP_016885095.1:p.Gly1998Arg | |
| XM_017029607.2:c.5989G>A | XP_016885096.1:p.Gly1997Arg | |
| XM_017029608.2:c.5941G>A | XP_016885097.1:p.Gly1981Arg | |
| XM_017029609.1:c.5905G>A | XP_016885098.1:p.Gly1969Arg | |
| XM_017029610.1:c.5902G>A | XP_016885099.1:p.Gly1968Arg | |
| XM_017029611.1:c.5857G>A | XP_016885100.1:p.Gly1953Arg | |
| XR_001755700.2:n.6522G>A | ||
| NM_138270.4:c.6109G>A | NP_612114.2:p.Gly2037Arg | |
| NM_000489.6:c.6223G>A MANE Select | NP_000480.3:p.Gly2075Arg | |
| NM_138270.5:c.6109G>A | NP_612114.2:p.Gly2037Arg |