Linked Data
ClinVar Variation Id:
434465
dbSNP Id:
rs782556767
ExAC:
X:76918960 T / C
gnomAD v2:
X-76918960-T-C
gnomAD v3:
X-77663471-T-C
gnomAD v4:
X-77663471-T-C
PubMed:
PMID:1415255
PMID:10398237
PMID:10417298
PMID:10570185
PMID:10602370
PMID:11015451
PMID:11050622
PMID:12032728
PMID:12116232
PMID:12673795
PMID:12858175
PMID:16118346
PMID:16722615
PMID:16813605
PMID:18409179
PMID:19005673
PMID:21653732
PMID:24289169
PMID:24805811
PMID:28371197
PMID:28371217
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77663471T>C , CM000685.2:g.77663471T>C | GRCh38 |
| NC_000023.10:g.76918960T>C , CM000685.1:g.76918960T>C | GRCh37 |
| NC_000023.9:g.76805616T>C | NCBI36 |
| NG_008838.2:g.127751A>G | |
| NG_008838.3:g.127799A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4031A>G MANE Select | ENSP00000362441.4:p.Lys1344Arg | |
| ENST00000373344.9:c.4031A>G | ENSP00000362441.4:p.Lys1344Arg | |
| ENST00000395603.7:c.3917A>G | ENSP00000378967.3:p.Lys1306Arg | |
| ENST00000480283.5:c.*3659A>G | ENSP00000480196.1:n.*3659A>G | |
| ENST00000624166.3:c.3827A>G | ENSP00000485103.1:p.Lys1276Arg | |
| NM_000489.4:c.4031A>G | NP_000480.3:p.Lys1344Arg | |
| NM_138270.3:c.3917A>G | NP_612114.2:p.Lys1306Arg | |
| XM_005262153.3:c.4028A>G | XP_005262210.2:p.Lys1343Arg | |
| XM_005262154.3:c.3944A>G | XP_005262211.2:p.Lys1315Arg | |
| XM_005262155.3:c.3914A>G | XP_005262212.2:p.Lys1305Arg | |
| XM_005262156.3:c.3866A>G | XP_005262213.2:p.Lys1289Arg | |
| XM_005262157.3:c.3827A>G | XP_005262214.2:p.Lys1276Arg | |
| XM_006724666.2:c.3914A>G | XP_006724729.1:p.Lys1305Arg | |
| XM_006724667.2:c.3752A>G | XP_006724730.1:p.Lys1251Arg | |
| XM_006724668.2:c.4031A>G | XP_006724731.1:p.Lys1344Arg | |
| XR_938400.1:n.4299A>G | ||
| NM_000489.5:c.4031A>G | NP_000480.3:p.Lys1344Arg | |
| XM_005262153.5:c.4028A>G | XP_005262210.2:p.Lys1343Arg | |
| XM_005262154.5:c.3944A>G | XP_005262211.2:p.Lys1315Arg | |
| XM_005262155.4:c.3914A>G | XP_005262212.2:p.Lys1305Arg | |
| XM_005262156.4:c.3866A>G | XP_005262213.2:p.Lys1289Arg | |
| XM_005262157.5:c.3827A>G | XP_005262214.2:p.Lys1276Arg | |
| XM_006724666.4:c.3914A>G | XP_006724729.1:p.Lys1305Arg | |
| XM_006724667.3:c.3752A>G | XP_006724730.1:p.Lys1251Arg | |
| XM_006724668.3:c.4031A>G | XP_006724731.1:p.Lys1344Arg | |
| XM_017029601.2:c.3941A>G | XP_016885090.1:p.Lys1314Arg | |
| XM_017029602.1:c.3911A>G | XP_016885091.1:p.Lys1304Arg | |
| XM_017029603.1:c.3863A>G | XP_016885092.1:p.Lys1288Arg | |
| XM_017029604.2:c.3830A>G | XP_016885093.1:p.Lys1277Arg | |
| XM_017029605.1:c.3827A>G | XP_016885094.1:p.Lys1276Arg | |
| XM_017029606.2:c.3800A>G | XP_016885095.1:p.Lys1267Arg | |
| XM_017029607.2:c.3797A>G | XP_016885096.1:p.Lys1266Arg | |
| XM_017029608.2:c.3749A>G | XP_016885097.1:p.Lys1250Arg | |
| XM_017029609.1:c.3713A>G | XP_016885098.1:p.Lys1238Arg | |
| XM_017029610.1:c.3710A>G | XP_016885099.1:p.Lys1237Arg | |
| XM_017029611.1:c.3665A>G | XP_016885100.1:p.Lys1222Arg | |
| XR_001755700.2:n.4256A>G | ||
| NM_138270.4:c.3917A>G | NP_612114.2:p.Lys1306Arg | |
| NM_000489.6:c.4031A>G MANE Select | NP_000480.3:p.Lys1344Arg | |
| NM_138270.5:c.3917A>G | NP_612114.2:p.Lys1306Arg |