Linked Data
ClinVar Variation Id:
219867
dbSNP Id:
rs763082717
ExAC:
17:29667656 A / G
gnomAD v2:
17-29667656-A-G
gnomAD v4:
17-31340638-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31340638A>G , CM000679.2:g.31340638A>G | GRCh38 |
| NC_000017.10:g.29667656A>G , CM000679.1:g.29667656A>G | GRCh37 |
| NC_000017.9:g.26691782A>G | NCBI36 |
| NG_009018.1:g.250662A>G , LRG_214:g.250662A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7037A>G | ENSP00000512431.1:p.Asn2346Ser | |
| ENST00000684826.1:c.1619A>G | ENSP00000509994.1:p.Asn540Ser | |
| ENST00000684998.1:n.4576A>G | ||
| ENST00000687027.1:c.1211A>G | ENSP00000508715.1:p.Asn404Ser | |
| ENST00000687863.1:n.3700A>G | ||
| ENST00000691014.1:c.7085A>G | ENSP00000510595.1:p.Asn2362Ser | |
| ENST00000693617.1:c.1619A>G | ENSP00000510031.1:p.Asn540Ser | |
| ENST00000358273.9:c.7055A>G MANE Select | ENSP00000351015.4:p.Asn2352Ser | |
| ENST00000356175.7:c.6992A>G | ENSP00000348498.3:p.Asn2331Ser | |
| ENST00000358273.8:c.7055A>G | ENSP00000351015.4:p.Asn2352Ser | |
| ENST00000456735.6:c.5990A>G | ENSP00000389907.2:p.Asn1997Ser | |
| ENST00000471572.6:c.438A>G | ||
| ENST00000579081.5:c.7191A>G | ENSP00000462408.1:n.7191A>G | |
| ENST00000581790.5:c.198A>G | ||
| ENST00000582892.1:n.304+55A>G | ||
| ENST00000584328.1:n.469A>G | ||
| NM_000267.3:c.6992A>G , LRG_214t1:c.6992A>G | NP_000258.1:p.Asn2331Ser | |
| NM_001042492.2:c.7055A>G , LRG_214t2:c.7055A>G | NP_001035957.1:p.Asn2352Ser | |
| XM_005257983.1:c.7055A>G | XP_005258040.1:p.Asn2352Ser | |
| XM_005257984.1:c.6992A>G | XP_005258041.1:p.Asn2331Ser | |
| XM_006721922.1:c.7085A>G | XP_006721985.1:p.Asn2362Ser | |
| XM_006721923.2:c.7046A>G | XP_006721986.1:p.Asn2349Ser | |
| XM_006721924.1:c.7085A>G | XP_006721987.1:p.Asn2362Ser | |
| XM_006721925.1:c.7022A>G | XP_006721988.1:p.Asn2341Ser | |
| XM_006721926.2:c.7085A>G | XP_006721989.1:p.Asn2362Ser | |
| XM_006721927.1:c.7085A>G | XP_006721990.1:p.Asn2362Ser | |
| XM_011524852.1:c.7082A>G | XP_011523154.1:p.Asn2361Ser | |
| XM_011524853.1:c.7046A>G | XP_011523155.1:p.Asn2349Ser | |
| XM_011524854.1:c.7046A>G | XP_011523156.1:p.Asn2349Ser | |
| XM_011524855.1:c.7046A>G | XP_011523157.1:p.Asn2349Ser | |
| XM_011524856.1:c.7046A>G | XP_011523158.1:p.Asn2349Ser | |
| XM_011524857.1:c.7085A>G | XP_011523159.1:p.Asn2362Ser | |
| NM_001042492.3:c.7055A>G MANE Select | NP_001035957.1:p.Asn2352Ser |