Linked Data
ClinVar Variation Id:
133648
dbSNP Id:
rs587778085
gnomAD v3:
X-77682743-T-C
gnomAD v4:
X-77682743-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682743T>C , CM000685.2:g.77682743T>C | GRCh38 |
| NC_000023.10:g.76938235T>C , CM000685.1:g.76938235T>C | GRCh37 |
| NC_000023.9:g.76824891T>C | NCBI36 |
| NG_008838.2:g.108479A>G | |
| NG_008838.3:g.108527A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.2513A>G MANE Select | ENSP00000362441.4:p.Lys838Arg | |
| ENST00000373344.9:c.2513A>G | ENSP00000362441.4:p.Lys838Arg | |
| ENST00000395603.7:c.2399A>G | ENSP00000378967.3:p.Lys800Arg | |
| ENST00000480283.5:c.*2141A>G | ENSP00000480196.1:n.*2141A>G | |
| ENST00000624032.3:c.2426A>G | ENSP00000485253.1:p.Lys809Arg | |
| ENST00000624166.3:c.2309A>G | ENSP00000485103.1:p.Lys770Arg | |
| NM_000489.4:c.2513A>G | NP_000480.3:p.Lys838Arg | |
| NM_138270.3:c.2399A>G | NP_612114.2:p.Lys800Arg | |
| XM_005262153.3:c.2510A>G | XP_005262210.2:p.Lys837Arg | |
| XM_005262154.3:c.2426A>G | XP_005262211.2:p.Lys809Arg | |
| XM_005262155.3:c.2396A>G | XP_005262212.2:p.Lys799Arg | |
| XM_005262156.3:c.2348A>G | XP_005262213.2:p.Lys783Arg | |
| XM_005262157.3:c.2309A>G | XP_005262214.2:p.Lys770Arg | |
| XM_006724666.2:c.2396A>G | XP_006724729.1:p.Lys799Arg | |
| XM_006724667.2:c.2234A>G | XP_006724730.1:p.Lys745Arg | |
| XM_006724668.2:c.2513A>G | XP_006724731.1:p.Lys838Arg | |
| XR_938400.1:n.2781A>G | ||
| NM_000489.5:c.2513A>G | NP_000480.3:p.Lys838Arg | |
| XM_005262153.5:c.2510A>G | XP_005262210.2:p.Lys837Arg | |
| XM_005262154.5:c.2426A>G | XP_005262211.2:p.Lys809Arg | |
| XM_005262155.4:c.2396A>G | XP_005262212.2:p.Lys799Arg | |
| XM_005262156.4:c.2348A>G | XP_005262213.2:p.Lys783Arg | |
| XM_005262157.5:c.2309A>G | XP_005262214.2:p.Lys770Arg | |
| XM_006724666.4:c.2396A>G | XP_006724729.1:p.Lys799Arg | |
| XM_006724667.3:c.2234A>G | XP_006724730.1:p.Lys745Arg | |
| XM_006724668.3:c.2513A>G | XP_006724731.1:p.Lys838Arg | |
| XM_017029601.2:c.2423A>G | XP_016885090.1:p.Lys808Arg | |
| XM_017029602.1:c.2393A>G | XP_016885091.1:p.Lys798Arg | |
| XM_017029603.1:c.2345A>G | XP_016885092.1:p.Lys782Arg | |
| XM_017029604.2:c.2312A>G | XP_016885093.1:p.Lys771Arg | |
| XM_017029605.1:c.2309A>G | XP_016885094.1:p.Lys770Arg | |
| XM_017029606.2:c.2282A>G | XP_016885095.1:p.Lys761Arg | |
| XM_017029607.2:c.2279A>G | XP_016885096.1:p.Lys760Arg | |
| XM_017029608.2:c.2231A>G | XP_016885097.1:p.Lys744Arg | |
| XM_017029609.1:c.2195A>G | XP_016885098.1:p.Lys732Arg | |
| XM_017029610.1:c.2192A>G | XP_016885099.1:p.Lys731Arg | |
| XM_017029611.1:c.2147A>G | XP_016885100.1:p.Lys716Arg | |
| XR_001755700.2:n.2738A>G | ||
| NM_138270.4:c.2399A>G | NP_612114.2:p.Lys800Arg | |
| NM_000489.6:c.2513A>G MANE Select | NP_000480.3:p.Lys838Arg | |
| NM_138270.5:c.2399A>G | NP_612114.2:p.Lys800Arg |