Linked Data
ClinVar Variation Id:
39651
dbSNP Id:
rs147499872
ExAC:
5:13916533 A / G
gnomAD v2:
5-13916533-A-G
gnomAD v3:
5-13916424-A-G
gnomAD v4:
5-13916424-A-G
PubMed:
PMID:23261302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13916424A>G , CM000667.2:g.13916424A>G | GRCh38 |
| NC_000005.9:g.13916533A>G , CM000667.1:g.13916533A>G | GRCh37 |
| NC_000005.8:g.13969533A>G | NCBI36 |
| NG_013081.1:g.33057T>C | |
| NG_013081.2:g.33057T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000680213.2:n.1177T>C | ||
| ENST00000682376.1:n.3084T>C | ||
| ENST00000683011.1:n.1060T>C | ||
| ENST00000683967.1:n.1220T>C | ||
| ENST00000684013.1:n.1220T>C | ||
| ENST00000684099.1:n.1216T>C | ||
| ENST00000265104.5:c.1121T>C MANE Select | ENSP00000265104.4:p.Ile374Thr | |
| ENST00000680213.1:c.881T>C | ENSP00000506622.1:p.Ile294Thr | |
| ENST00000681290.1:c.1076T>C | ENSP00000505288.1:p.Ile359Thr | |
| ENST00000265104.4:c.1121T>C | ENSP00000265104.4:p.Ile374Thr | |
| ENST00000508040.1:n.1529T>C | ||
| NM_001369.2:c.1121T>C | NP_001360.1:p.Ile374Thr | |
| XM_005248262.2:c.1076T>C | XP_005248319.1:p.Ile359Thr | |
| XM_011513990.1:c.1121T>C | XP_011512292.1:p.Ile374Thr | |
| XR_925598.1:n.1328T>C | ||
| XM_005248262.3:c.1229T>C | XP_005248319.2:p.Ile410Thr | |
| XM_017009177.1:c.1229T>C | XP_016864666.1:p.Ile410Thr | |
| XM_017009178.1:c.134T>C | XP_016864667.1:p.Ile45Thr | |
| XM_017009179.2:c.134T>C | XP_016864668.1:p.Ile45Thr | |
| XM_017009180.1:c.1229T>C | XP_016864669.1:p.Ile410Thr | |
| XM_017009181.1:c.1229T>C | XP_016864670.1:p.Ile410Thr | |
| XM_017009182.1:c.1229T>C | XP_016864671.1:p.Ile410Thr | |
| XM_017009183.1:c.1229T>C | XP_016864672.1:p.Ile410Thr | |
| XM_017009184.1:c.1229T>C | XP_016864673.1:p.Ile410Thr | |
| XM_017009187.1:c.1229T>C | XP_016864676.1:p.Ile410Thr | |
| XM_024454388.1:c.134T>C | XP_024310156.1:p.Ile45Thr | |
| XM_024454389.1:c.-839T>C | XP_024310157.1:n.-839T>C | |
| XR_001742034.1:n.1246T>C | ||
| XR_001742035.1:n.1246T>C | ||
| NM_001369.3:c.1121T>C MANE Select | NP_001360.1:p.Ile374Thr |