Linked Data
ClinVar Variation Id:
11744
dbSNP Id:
rs122445110
PubMed:
PMID:1415255
PMID:10398234
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.77589902A>G , CM000685.2:g.77589902A>G | GRCh38 |
| NC_000023.10:g.76845372A>G , CM000685.1:g.76845372A>G | GRCh37 |
| NC_000023.9:g.76732028A>G | NCBI36 |
| NG_008838.2:g.201320T>C | |
| NG_008838.3:g.201368T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373344.11:c.6149T>C MANE Select | ENSP00000362441.4:p.Ile2050Thr | |
| ENST00000675732.1:c.1247T>C | ENSP00000502598.1:p.Ile416Thr | |
| ENST00000373344.9:c.6149T>C | ENSP00000362441.4:p.Ile2050Thr | |
| ENST00000395603.7:c.6035T>C | ENSP00000378967.3:p.Ile2012Thr | |
| ENST00000480283.5:c.*5777T>C | ENSP00000480196.1:n.*5777T>C | |
| ENST00000623316.1:c.633T>C | ||
| ENST00000623706.3:n.3219T>C | ||
| NM_000489.4:c.6149T>C | NP_000480.3:p.Ile2050Thr | |
| NM_138270.3:c.6035T>C | NP_612114.2:p.Ile2012Thr | |
| XM_005262153.3:c.6146T>C | XP_005262210.2:p.Ile2049Thr | |
| XM_005262154.3:c.6062T>C | XP_005262211.2:p.Ile2021Thr | |
| XM_005262155.3:c.6032T>C | XP_005262212.2:p.Ile2011Thr | |
| XM_005262156.3:c.5984T>C | XP_005262213.2:p.Ile1995Thr | |
| XM_005262157.3:c.5945T>C | XP_005262214.2:p.Ile1982Thr | |
| XM_006724666.2:c.6032T>C | XP_006724729.1:p.Ile2011Thr | |
| XM_006724667.2:c.5870T>C | XP_006724730.1:p.Ile1957Thr | |
| XR_938400.1:n.6491T>C | ||
| NM_000489.5:c.6149T>C | NP_000480.3:p.Ile2050Thr | |
| XM_005262153.5:c.6146T>C | XP_005262210.2:p.Ile2049Thr | |
| XM_005262154.5:c.6062T>C | XP_005262211.2:p.Ile2021Thr | |
| XM_005262155.4:c.6032T>C | XP_005262212.2:p.Ile2011Thr | |
| XM_005262156.4:c.5984T>C | XP_005262213.2:p.Ile1995Thr | |
| XM_005262157.5:c.5945T>C | XP_005262214.2:p.Ile1982Thr | |
| XM_006724666.4:c.6032T>C | XP_006724729.1:p.Ile2011Thr | |
| XM_006724667.3:c.5870T>C | XP_006724730.1:p.Ile1957Thr | |
| XM_017029601.2:c.6059T>C | XP_016885090.1:p.Ile2020Thr | |
| XM_017029602.1:c.6029T>C | XP_016885091.1:p.Ile2010Thr | |
| XM_017029603.1:c.5981T>C | XP_016885092.1:p.Ile1994Thr | |
| XM_017029604.2:c.5948T>C | XP_016885093.1:p.Ile1983Thr | |
| XM_017029605.1:c.5945T>C | XP_016885094.1:p.Ile1982Thr | |
| XM_017029606.2:c.5918T>C | XP_016885095.1:p.Ile1973Thr | |
| XM_017029607.2:c.5915T>C | XP_016885096.1:p.Ile1972Thr | |
| XM_017029608.2:c.5867T>C | XP_016885097.1:p.Ile1956Thr | |
| XM_017029609.1:c.5831T>C | XP_016885098.1:p.Ile1944Thr | |
| XM_017029610.1:c.5828T>C | XP_016885099.1:p.Ile1943Thr | |
| XM_017029611.1:c.5783T>C | XP_016885100.1:p.Ile1928Thr | |
| XR_001755700.2:n.6448T>C | ||
| NM_138270.4:c.6035T>C | NP_612114.2:p.Ile2012Thr | |
| NM_000489.6:c.6149T>C MANE Select | NP_000480.3:p.Ile2050Thr | |
| NM_138270.5:c.6035T>C | NP_612114.2:p.Ile2012Thr |