Linked Data
ClinVar Variation Id:
141895
ClinVar RCV Id:
RCV000130596
RCV000430382
RCV001128480
RCV001128479
RCV001128481
RCV001082766
RCV001797634
RCV004551256
dbSNP Id:
rs146315101
ExAC:
17:29685568 A / G
gnomAD v2:
17-29685568-A-G
gnomAD v3:
17-31358550-A-G
gnomAD v4:
17-31358550-A-G
PubMed:
PMID:16944272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31358550A>G , CM000679.2:g.31358550A>G | GRCh38 |
| NC_000017.10:g.29685568A>G , CM000679.1:g.29685568A>G | GRCh37 |
| NC_000017.9:g.26709694A>G | NCBI36 |
| NG_009018.1:g.268574A>G , LRG_214:g.268574A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.8023A>G | ENSP00000512431.1:p.Ile2675Val | |
| ENST00000684826.1:c.2605A>G | ENSP00000509994.1:p.Ile869Val | |
| ENST00000687027.1:c.2197A>G | ENSP00000508715.1:p.Ile733Val | |
| ENST00000687863.1:n.4686A>G | ||
| ENST00000689464.1:c.1091A>G | ||
| ENST00000691014.1:c.8071A>G | ENSP00000510595.1:p.Ile2691Val | |
| ENST00000693617.1:c.2605A>G | ENSP00000510031.1:p.Ile869Val | |
| ENST00000358273.9:c.8041A>G MANE Select | ENSP00000351015.4:p.Ile2681Val | |
| ENST00000356175.7:c.7978A>G | ENSP00000348498.3:p.Ile2660Val | |
| ENST00000358273.8:c.8041A>G | ENSP00000351015.4:p.Ile2681Val | |
| ENST00000456735.6:c.6976A>G | ENSP00000389907.2:p.Ile2326Val | |
| ENST00000468273.1:c.3A>G | ||
| ENST00000471572.6:c.1424A>G | ||
| ENST00000577967.1:n.2747A>G | ||
| ENST00000579081.5:c.8177A>G | ENSP00000462408.1:n.8177A>G | |
| ENST00000581790.5:c.1026A>G | ||
| NM_000267.3:c.7978A>G , LRG_214t1:c.7978A>G | NP_000258.1:p.Ile2660Val | |
| NM_001042492.2:c.8041A>G , LRG_214t2:c.8041A>G | NP_001035957.1:p.Ile2681Val | |
| XM_005257983.1:c.8041A>G | XP_005258040.1:p.Ile2681Val | |
| XM_005257984.1:c.7978A>G | XP_005258041.1:p.Ile2660Val | |
| XM_006721922.1:c.8071A>G | XP_006721985.1:p.Ile2691Val | |
| XM_006721923.2:c.8032A>G | XP_006721986.1:p.Ile2678Val | |
| XM_006721924.1:c.8071A>G | XP_006721987.1:p.Ile2691Val | |
| XM_006721925.1:c.8008A>G | XP_006721988.1:p.Ile2670Val | |
| XM_006721926.2:c.8071A>G | XP_006721989.1:p.Ile2691Val | |
| XM_006721927.1:c.8071A>G | XP_006721990.1:p.Ile2691Val | |
| XM_011524852.1:c.8068A>G | XP_011523154.1:p.Ile2690Val | |
| XM_011524853.1:c.8032A>G | XP_011523155.1:p.Ile2678Val | |
| XM_011524854.1:c.8032A>G | XP_011523156.1:p.Ile2678Val | |
| XM_011524855.1:c.8032A>G | XP_011523157.1:p.Ile2678Val | |
| XM_011524856.1:c.8032A>G | XP_011523158.1:p.Ile2678Val | |
| XM_011524857.1:c.7948A>G | XP_011523159.1:p.Ile2650Val | |
| NM_001042492.3:c.8041A>G MANE Select | NP_001035957.1:p.Ile2681Val |