Linked Data
ClinVar Variation Id:
18102
dbSNP Id:
rs63750643
COSMIC:
COSM1029634
PubMed:
PMID:12034808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25891793T>C , CM000683.2:g.25891793T>C | GRCh38 |
| NC_000021.8:g.27264105T>C , CM000683.1:g.27264105T>C | GRCh37 |
| NC_000021.7:g.26185976T>C | NCBI36 |
| NG_007376.1:g.284028A>G | |
| NG_007376.2:g.284336A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707132.1:n.2107A>G | ||
| ENST00000707133.1:n.537A>G | ||
| ENST00000707134.1:n.806A>G | ||
| ENST00000346798.8:c.2140A>G MANE Select | ENSP00000284981.4:p.Thr714Ala | |
| ENST00000346798.7:c.2140A>G | ENSP00000284981.4:p.Thr714Ala | |
| ENST00000348990.9:c.1915A>G | ENSP00000345463.5:p.Thr639Ala | |
| ENST00000354192.7:c.1747A>G | ENSP00000346129.3:p.Thr583Ala | |
| ENST00000357903.7:c.2083A>G | ENSP00000350578.3:p.Thr695Ala | |
| ENST00000358918.7:c.2086A>G | ENSP00000351796.3:p.Thr696Ala | |
| ENST00000359726.7:c.1810A>G | ENSP00000352760.4:p.Thr604Ala | |
| ENST00000439274.6:c.1972A>G | ENSP00000398879.2:p.Thr658Ala | |
| ENST00000440126.7:c.2068A>G | ENSP00000387483.2:p.Thr690Ala | |
| ENST00000464867.1:n.487A>G | ||
| NM_000484.3:c.2140A>G | NP_000475.1:p.Thr714Ala | |
| NM_001136016.3:c.2068A>G | NP_001129488.1:p.Thr690Ala | |
| NM_001136129.2:c.1747A>G | NP_001129601.1:p.Thr583Ala | |
| NM_001136130.2:c.1972A>G | NP_001129602.1:p.Thr658Ala | |
| NM_001136131.2:c.1810A>G | NP_001129603.1:p.Thr604Ala | |
| NM_001204301.1:c.2086A>G | NP_001191230.1:p.Thr696Ala | |
| NM_001204302.1:c.2029A>G | NP_001191231.1:p.Thr677Ala | |
| NM_001204303.1:c.1861A>G | NP_001191232.1:p.Thr621Ala | |
| NM_201413.2:c.2083A>G | NP_958816.1:p.Thr695Ala | |
| NM_201414.2:c.1915A>G | NP_958817.1:p.Thr639Ala | |
| NM_000484.4:c.2140A>G MANE Select | NP_000475.1:p.Thr714Ala | |
| NM_001136129.3:c.1747A>G | NP_001129601.1:p.Thr583Ala | |
| NM_001136130.3:c.1972A>G | NP_001129602.1:p.Thr658Ala | |
| NM_001204301.2:c.2086A>G | NP_001191230.1:p.Thr696Ala | |
| NM_001204302.2:c.2029A>G | NP_001191231.1:p.Thr677Ala | |
| NM_001204303.2:c.1861A>G | NP_001191232.1:p.Thr621Ala | |
| NM_201413.3:c.2083A>G | NP_958816.1:p.Thr695Ala | |
| NM_201414.3:c.1915A>G | NP_958817.1:p.Thr639Ala | |
| NM_001136131.3:c.1810A>G | NP_001129603.1:p.Thr604Ala | |
| NM_001385253.1:c.1972A>G | NP_001372182.1:p.Thr658Ala |