Linked Data
ClinVar Variation Id:
186672
dbSNP Id:
rs370209920
ExAC:
17:29667604 A / G
gnomAD v2:
17-29667604-A-G
gnomAD v3:
17-31340586-A-G
gnomAD v4:
17-31340586-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31340586A>G , CM000679.2:g.31340586A>G | GRCh38 |
| NC_000017.10:g.29667604A>G , CM000679.1:g.29667604A>G | GRCh37 |
| NC_000017.9:g.26691730A>G | NCBI36 |
| NG_009018.1:g.250610A>G , LRG_214:g.250610A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6985A>G | ENSP00000512431.1:p.Thr2329Ala | |
| ENST00000684826.1:c.1567A>G | ENSP00000509994.1:p.Thr523Ala | |
| ENST00000684998.1:n.4524A>G | ||
| ENST00000687027.1:c.1159A>G | ENSP00000508715.1:p.Thr387Ala | |
| ENST00000687863.1:n.3648A>G | ||
| ENST00000691014.1:c.7033A>G | ENSP00000510595.1:p.Thr2345Ala | |
| ENST00000693617.1:c.1567A>G | ENSP00000510031.1:p.Thr523Ala | |
| ENST00000358273.9:c.7003A>G MANE Select | ENSP00000351015.4:p.Thr2335Ala | |
| ENST00000356175.7:c.6940A>G | ENSP00000348498.3:p.Thr2314Ala | |
| ENST00000358273.8:c.7003A>G | ENSP00000351015.4:p.Thr2335Ala | |
| ENST00000456735.6:c.5938A>G | ENSP00000389907.2:p.Thr1980Ala | |
| ENST00000471572.6:c.386A>G | ||
| ENST00000579081.5:c.7139A>G | ENSP00000462408.1:n.7139A>G | |
| ENST00000581790.5:c.146A>G | ||
| ENST00000582892.1:n.304+3A>G | ||
| ENST00000584328.1:n.417A>G | ||
| NM_000267.3:c.6940A>G , LRG_214t1:c.6940A>G | NP_000258.1:p.Thr2314Ala | |
| NM_001042492.2:c.7003A>G , LRG_214t2:c.7003A>G | NP_001035957.1:p.Thr2335Ala | |
| XM_005257983.1:c.7003A>G | XP_005258040.1:p.Thr2335Ala | |
| XM_005257984.1:c.6940A>G | XP_005258041.1:p.Thr2314Ala | |
| XM_006721922.1:c.7033A>G | XP_006721985.1:p.Thr2345Ala | |
| XM_006721923.2:c.6994A>G | XP_006721986.1:p.Thr2332Ala | |
| XM_006721924.1:c.7033A>G | XP_006721987.1:p.Thr2345Ala | |
| XM_006721925.1:c.6970A>G | XP_006721988.1:p.Thr2324Ala | |
| XM_006721926.2:c.7033A>G | XP_006721989.1:p.Thr2345Ala | |
| XM_006721927.1:c.7033A>G | XP_006721990.1:p.Thr2345Ala | |
| XM_011524852.1:c.7030A>G | XP_011523154.1:p.Thr2344Ala | |
| XM_011524853.1:c.6994A>G | XP_011523155.1:p.Thr2332Ala | |
| XM_011524854.1:c.6994A>G | XP_011523156.1:p.Thr2332Ala | |
| XM_011524855.1:c.6994A>G | XP_011523157.1:p.Thr2332Ala | |
| XM_011524856.1:c.6994A>G | XP_011523158.1:p.Thr2332Ala | |
| XM_011524857.1:c.7033A>G | XP_011523159.1:p.Thr2345Ala | |
| NM_001042492.3:c.7003A>G MANE Select | NP_001035957.1:p.Thr2335Ala |