Linked Data
ClinVar Variation Id:
231655
dbSNP Id:
rs779789452
ExAC:
17:29687582 T / G
gnomAD v2:
17-29687582-T-G
gnomAD v4:
17-31360564-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31360564T>G , CM000679.2:g.31360564T>G | GRCh38 |
| NC_000017.10:g.29687582T>G , CM000679.1:g.29687582T>G | GRCh37 |
| NC_000017.9:g.26711708T>G | NCBI36 |
| NG_009018.1:g.270588T>G , LRG_214:g.270588T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.8220T>G | ENSP00000512431.1:p.Ile2740Met | |
| ENST00000684826.1:c.2802T>G | ENSP00000509994.1:p.Ile934Met | |
| ENST00000687027.1:c.2394T>G | ENSP00000508715.1:p.Ile798Met | |
| ENST00000689464.1:c.1288T>G | ||
| ENST00000691014.1:c.8268T>G | ENSP00000510595.1:p.Ile2756Met | |
| ENST00000693617.1:c.2802T>G | ENSP00000510031.1:p.Ile934Met | |
| ENST00000358273.9:c.8238T>G MANE Select | ENSP00000351015.4:p.Ile2746Met | |
| ENST00000356175.7:c.8175T>G | ENSP00000348498.3:p.Ile2725Met | |
| ENST00000358273.8:c.8238T>G | ENSP00000351015.4:p.Ile2746Met | |
| ENST00000456735.6:c.7173T>G | ENSP00000389907.2:p.Ile2391Met | |
| ENST00000468273.1:c.200T>G | ||
| ENST00000471572.6:c.1621T>G | ||
| ENST00000577967.1:n.4761T>G | ||
| ENST00000579081.5:c.8374T>G | ENSP00000462408.1:n.8374T>G | |
| ENST00000581790.5:c.1223T>G | ||
| NM_000267.3:c.8175T>G , LRG_214t1:c.8175T>G | NP_000258.1:p.Ile2725Met | |
| NM_001042492.2:c.8238T>G , LRG_214t2:c.8238T>G | NP_001035957.1:p.Ile2746Met | |
| XM_005257983.1:c.8238T>G | XP_005258040.1:p.Ile2746Met | |
| XM_005257984.1:c.8175T>G | XP_005258041.1:p.Ile2725Met | |
| XM_006721922.1:c.8268T>G | XP_006721985.1:p.Ile2756Met | |
| XM_006721923.2:c.8229T>G | XP_006721986.1:p.Ile2743Met | |
| XM_006721924.1:c.8268T>G | XP_006721987.1:p.Ile2756Met | |
| XM_006721925.1:c.8205T>G | XP_006721988.1:p.Ile2735Met | |
| XM_006721926.2:c.8268T>G | XP_006721989.1:p.Ile2756Met | |
| XM_006721927.1:c.8268T>G | XP_006721990.1:p.Ile2756Met | |
| XM_011524852.1:c.8265T>G | XP_011523154.1:p.Ile2755Met | |
| XM_011524853.1:c.8229T>G | XP_011523155.1:p.Ile2743Met | |
| XM_011524854.1:c.8229T>G | XP_011523156.1:p.Ile2743Met | |
| XM_011524855.1:c.8229T>G | XP_011523157.1:p.Ile2743Met | |
| XM_011524856.1:c.8229T>G | XP_011523158.1:p.Ile2743Met | |
| XM_011524857.1:c.8145T>G | XP_011523159.1:p.Ile2715Met | |
| NM_001042492.3:c.8238T>G MANE Select | NP_001035957.1:p.Ile2746Met |