Linked Data
ClinVar Variation Id:
186814
dbSNP Id:
rs778233452
ExAC:
17:29701099 G / A
gnomAD v2:
17-29701099-G-A
gnomAD v3:
17-31374081-G-A
gnomAD v4:
17-31374081-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31374081G>A , CM000679.2:g.31374081G>A | GRCh38 |
| NC_000017.10:g.29701099G>A , CM000679.1:g.29701099G>A | GRCh37 |
| NC_000017.9:g.26725225G>A | NCBI36 |
| NG_009018.1:g.284105G>A , LRG_214:g.284105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.*81G>A | ENSP00000512431.1:n.*81G>A | |
| ENST00000684826.1:c.3064G>A | ENSP00000509994.1:p.Gly1022Arg | |
| ENST00000687027.1:c.2602G>A | ENSP00000508715.1:p.Gly868Arg | |
| ENST00000689464.1:c.1550G>A | ||
| ENST00000691014.1:c.8476G>A | ENSP00000510595.1:p.Gly2826Arg | |
| ENST00000693617.1:c.3010G>A | ENSP00000510031.1:p.Gly1004Arg | |
| ENST00000358273.9:c.8446G>A MANE Select | ENSP00000351015.4:p.Gly2816Arg | |
| ENST00000356175.7:c.8383G>A | ENSP00000348498.3:p.Gly2795Arg | |
| ENST00000358273.8:c.8446G>A | ENSP00000351015.4:p.Gly2816Arg | |
| ENST00000456735.6:c.7435G>A | ENSP00000389907.2:p.Gly2479Arg | |
| ENST00000471572.6:c.1829G>A | ||
| ENST00000579081.5:c.8582G>A | ENSP00000462408.1:n.8582G>A | |
| NM_000267.3:c.8383G>A , LRG_214t1:c.8383G>A | NP_000258.1:p.Gly2795Arg | |
| NM_001042492.2:c.8446G>A , LRG_214t2:c.8446G>A | NP_001035957.1:p.Gly2816Arg | |
| XM_005257983.1:c.8500G>A | XP_005258040.1:p.Gly2834Arg | |
| XM_005257984.1:c.8437G>A | XP_005258041.1:p.Gly2813Arg | |
| XM_006721922.1:c.8530G>A | XP_006721985.1:p.Gly2844Arg | |
| XM_006721923.2:c.8491G>A | XP_006721986.1:p.Gly2831Arg | |
| XM_006721924.1:c.8476G>A | XP_006721987.1:p.Gly2826Arg | |
| XM_006721925.1:c.8467G>A | XP_006721988.1:p.Gly2823Arg | |
| XM_006721926.2:c.*81G>A | XP_006721989.1:n.*81G>A | |
| XM_011524852.1:c.8527G>A | XP_011523154.1:p.Gly2843Arg | |
| XM_011524853.1:c.8491G>A | XP_011523155.1:p.Gly2831Arg | |
| XM_011524854.1:c.8491G>A | XP_011523156.1:p.Gly2831Arg | |
| XM_011524855.1:c.8491G>A | XP_011523157.1:p.Gly2831Arg | |
| XM_011524856.1:c.8491G>A | XP_011523158.1:p.Gly2831Arg | |
| XM_011524857.1:c.8407G>A | XP_011523159.1:p.Gly2803Arg | |
| NM_001042492.3:c.8446G>A MANE Select | NP_001035957.1:p.Gly2816Arg |