Linked Data
ClinVar Variation Id:
527488
dbSNP Id:
rs1283946778
gnomAD v2:
17-29684306-C-G
gnomAD v3:
17-31357288-C-G
gnomAD v4:
17-31357288-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31357288C>G , CM000679.2:g.31357288C>G | GRCh38 |
| NC_000017.10:g.29684306C>G , CM000679.1:g.29684306C>G | GRCh37 |
| NC_000017.9:g.26708432C>G | NCBI36 |
| NG_009018.1:g.267312C>G , LRG_214:g.267312C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7871C>G | ENSP00000512431.1:p.Thr2624Ser | |
| ENST00000684826.1:c.2453C>G | ENSP00000509994.1:p.Thr818Ser | |
| ENST00000687027.1:c.2045C>G | ENSP00000508715.1:p.Thr682Ser | |
| ENST00000687863.1:n.4534C>G | ||
| ENST00000689464.1:c.939C>G | ||
| ENST00000691014.1:c.7919C>G | ENSP00000510595.1:p.Thr2640Ser | |
| ENST00000693617.1:c.2453C>G | ENSP00000510031.1:p.Thr818Ser | |
| ENST00000358273.9:c.7889C>G MANE Select | ENSP00000351015.4:p.Thr2630Ser | |
| ENST00000356175.7:c.7826C>G | ENSP00000348498.3:p.Thr2609Ser | |
| ENST00000358273.8:c.7889C>G | ENSP00000351015.4:p.Thr2630Ser | |
| ENST00000456735.6:c.6824C>G | ENSP00000389907.2:p.Thr2275Ser | |
| ENST00000471572.6:c.1272C>G | ||
| ENST00000577967.1:n.1485C>G | ||
| ENST00000579081.5:c.8025C>G | ENSP00000462408.1:n.8025C>G | |
| ENST00000581790.5:c.874C>G | ||
| NM_000267.3:c.7826C>G , LRG_214t1:c.7826C>G | NP_000258.1:p.Thr2609Ser | |
| NM_001042492.2:c.7889C>G , LRG_214t2:c.7889C>G | NP_001035957.1:p.Thr2630Ser | |
| XM_005257983.1:c.7889C>G | XP_005258040.1:p.Thr2630Ser | |
| XM_005257984.1:c.7826C>G | XP_005258041.1:p.Thr2609Ser | |
| XM_006721922.1:c.7919C>G | XP_006721985.1:p.Thr2640Ser | |
| XM_006721923.2:c.7880C>G | XP_006721986.1:p.Thr2627Ser | |
| XM_006721924.1:c.7919C>G | XP_006721987.1:p.Thr2640Ser | |
| XM_006721925.1:c.7856C>G | XP_006721988.1:p.Thr2619Ser | |
| XM_006721926.2:c.7919C>G | XP_006721989.1:p.Thr2640Ser | |
| XM_006721927.1:c.7919C>G | XP_006721990.1:p.Thr2640Ser | |
| XM_011524852.1:c.7916C>G | XP_011523154.1:p.Thr2639Ser | |
| XM_011524853.1:c.7880C>G | XP_011523155.1:p.Thr2627Ser | |
| XM_011524854.1:c.7880C>G | XP_011523156.1:p.Thr2627Ser | |
| XM_011524855.1:c.7880C>G | XP_011523157.1:p.Thr2627Ser | |
| XM_011524856.1:c.7880C>G | XP_011523158.1:p.Thr2627Ser | |
| XM_011524857.1:c.7796C>G | XP_011523159.1:p.Thr2599Ser | |
| NM_001042492.3:c.7889C>G MANE Select | NP_001035957.1:p.Thr2630Ser |