Linked Data
ClinVar Variation Id:
527419
dbSNP Id:
rs766496842
ExAC:
17:29679351 G / A
gnomAD v2:
17-29679351-G-A
gnomAD v4:
17-31352333-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31352333G>A , CM000679.2:g.31352333G>A | GRCh38 |
| NC_000017.10:g.29679351G>A , CM000679.1:g.29679351G>A | GRCh37 |
| NC_000017.9:g.26703477G>A | NCBI36 |
| NG_009018.1:g.262357G>A , LRG_214:g.262357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7516G>A | ENSP00000512431.1:p.Gly2506Ser | |
| ENST00000684826.1:c.2098G>A | ENSP00000509994.1:p.Gly700Ser | |
| ENST00000687027.1:c.1690G>A | ENSP00000508715.1:p.Gly564Ser | |
| ENST00000687863.1:n.4179G>A | ||
| ENST00000689464.1:c.584G>A | ||
| ENST00000691014.1:c.7564G>A | ENSP00000510595.1:p.Gly2522Ser | |
| ENST00000693617.1:c.2098G>A | ENSP00000510031.1:p.Gly700Ser | |
| ENST00000358273.9:c.7534G>A MANE Select | ENSP00000351015.4:p.Gly2512Ser | |
| ENST00000356175.7:c.7471G>A | ENSP00000348498.3:p.Gly2491Ser | |
| ENST00000358273.8:c.7534G>A | ENSP00000351015.4:p.Gly2512Ser | |
| ENST00000456735.6:c.6469G>A | ENSP00000389907.2:p.Gly2157Ser | |
| ENST00000471572.6:c.917G>A | ||
| ENST00000579081.5:c.7670G>A | ENSP00000462408.1:n.7670G>A | |
| ENST00000581790.5:c.600+2015G>A | ||
| NM_000267.3:c.7471G>A , LRG_214t1:c.7471G>A | NP_000258.1:p.Gly2491Ser | |
| NM_001042492.2:c.7534G>A , LRG_214t2:c.7534G>A | NP_001035957.1:p.Gly2512Ser | |
| XM_005257983.1:c.7534G>A | XP_005258040.1:p.Gly2512Ser | |
| XM_005257984.1:c.7471G>A | XP_005258041.1:p.Gly2491Ser | |
| XM_006721922.1:c.7564G>A | XP_006721985.1:p.Gly2522Ser | |
| XM_006721923.2:c.7525G>A | XP_006721986.1:p.Gly2509Ser | |
| XM_006721924.1:c.7564G>A | XP_006721987.1:p.Gly2522Ser | |
| XM_006721925.1:c.7501G>A | XP_006721988.1:p.Gly2501Ser | |
| XM_006721926.2:c.7564G>A | XP_006721989.1:p.Gly2522Ser | |
| XM_006721927.1:c.7564G>A | XP_006721990.1:p.Gly2522Ser | |
| XM_011524852.1:c.7561G>A | XP_011523154.1:p.Gly2521Ser | |
| XM_011524853.1:c.7525G>A | XP_011523155.1:p.Gly2509Ser | |
| XM_011524854.1:c.7525G>A | XP_011523156.1:p.Gly2509Ser | |
| XM_011524855.1:c.7525G>A | XP_011523157.1:p.Gly2509Ser | |
| XM_011524856.1:c.7525G>A | XP_011523158.1:p.Gly2509Ser | |
| XM_011524857.1:c.7564G>A | XP_011523159.1:p.Gly2522Ser | |
| NM_001042492.3:c.7534G>A MANE Select | NP_001035957.1:p.Gly2512Ser |