Linked Data
ClinVar Variation Id:
216411
ClinVar RCV Id:
RCV000200710
RCV000575889
RCV000764116
RCV000681161
RCV002317726
RCV003401080
RCV004553095
dbSNP Id:
rs748027595
ExAC:
17:29677275 A / G
gnomAD v2:
17-29677275-A-G
gnomAD v4:
17-31350257-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31350257A>G , CM000679.2:g.31350257A>G | GRCh38 |
| NC_000017.10:g.29677275A>G , CM000679.1:g.29677275A>G | GRCh37 |
| NC_000017.9:g.26701401A>G | NCBI36 |
| NG_009018.1:g.260281A>G , LRG_214:g.260281A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7378A>G | ENSP00000512431.1:p.Ile2460Val | |
| ENST00000684826.1:c.1960A>G | ENSP00000509994.1:p.Ile654Val | |
| ENST00000687027.1:c.1552A>G | ENSP00000508715.1:p.Ile518Val | |
| ENST00000687863.1:n.4041A>G | ||
| ENST00000689464.1:c.446A>G | ||
| ENST00000691014.1:c.7426A>G | ENSP00000510595.1:p.Ile2476Val | |
| ENST00000693617.1:c.1960A>G | ENSP00000510031.1:p.Ile654Val | |
| ENST00000358273.9:c.7396A>G MANE Select | ENSP00000351015.4:p.Ile2466Val | |
| ENST00000356175.7:c.7333A>G | ENSP00000348498.3:p.Ile2445Val | |
| ENST00000358273.8:c.7396A>G | ENSP00000351015.4:p.Ile2466Val | |
| ENST00000456735.6:c.6331A>G | ENSP00000389907.2:p.Ile2111Val | |
| ENST00000471572.6:c.779A>G | ||
| ENST00000579081.5:c.7532A>G | ENSP00000462408.1:n.7532A>G | |
| ENST00000581790.5:c.539A>G | ||
| NM_000267.3:c.7333A>G , LRG_214t1:c.7333A>G | NP_000258.1:p.Ile2445Val | |
| NM_001042492.2:c.7396A>G , LRG_214t2:c.7396A>G | NP_001035957.1:p.Ile2466Val | |
| XM_005257983.1:c.7396A>G | XP_005258040.1:p.Ile2466Val | |
| XM_005257984.1:c.7333A>G | XP_005258041.1:p.Ile2445Val | |
| XM_006721922.1:c.7426A>G | XP_006721985.1:p.Ile2476Val | |
| XM_006721923.2:c.7387A>G | XP_006721986.1:p.Ile2463Val | |
| XM_006721924.1:c.7426A>G | XP_006721987.1:p.Ile2476Val | |
| XM_006721925.1:c.7363A>G | XP_006721988.1:p.Ile2455Val | |
| XM_006721926.2:c.7426A>G | XP_006721989.1:p.Ile2476Val | |
| XM_006721927.1:c.7426A>G | XP_006721990.1:p.Ile2476Val | |
| XM_011524852.1:c.7423A>G | XP_011523154.1:p.Ile2475Val | |
| XM_011524853.1:c.7387A>G | XP_011523155.1:p.Ile2463Val | |
| XM_011524854.1:c.7387A>G | XP_011523156.1:p.Ile2463Val | |
| XM_011524855.1:c.7387A>G | XP_011523157.1:p.Ile2463Val | |
| XM_011524856.1:c.7387A>G | XP_011523158.1:p.Ile2463Val | |
| XM_011524857.1:c.7426A>G | XP_011523159.1:p.Ile2476Val | |
| NM_001042492.3:c.7396A>G MANE Select | NP_001035957.1:p.Ile2466Val |