Linked Data
ClinVar Variation Id:
141130
dbSNP Id:
rs560262404
ExAC:
17:29684327 G / A
gnomAD v2:
17-29684327-G-A
gnomAD v3:
17-31357309-G-A
gnomAD v4:
17-31357309-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31357309G>A , CM000679.2:g.31357309G>A | GRCh38 |
| NC_000017.10:g.29684327G>A , CM000679.1:g.29684327G>A | GRCh37 |
| NC_000017.9:g.26708453G>A | NCBI36 |
| NG_009018.1:g.267333G>A , LRG_214:g.267333G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696138.1:c.7892G>A | ENSP00000512431.1:p.Arg2631Gln | |
| ENST00000684826.1:c.2474G>A | ENSP00000509994.1:p.Arg825Gln | |
| ENST00000687027.1:c.2066G>A | ENSP00000508715.1:p.Arg689Gln | |
| ENST00000687863.1:n.4555G>A | ||
| ENST00000689464.1:c.960G>A | ||
| ENST00000691014.1:c.7940G>A | ENSP00000510595.1:p.Arg2647Gln | |
| ENST00000693617.1:c.2474G>A | ENSP00000510031.1:p.Arg825Gln | |
| ENST00000358273.9:c.7910G>A MANE Select | ENSP00000351015.4:p.Arg2637Gln | |
| ENST00000356175.7:c.7847G>A | ENSP00000348498.3:p.Arg2616Gln | |
| ENST00000358273.8:c.7910G>A | ENSP00000351015.4:p.Arg2637Gln | |
| ENST00000456735.6:c.6845G>A | ENSP00000389907.2:p.Arg2282Gln | |
| ENST00000471572.6:c.1293G>A | ||
| ENST00000577967.1:n.1506G>A | ||
| ENST00000579081.5:c.8046G>A | ENSP00000462408.1:n.8046G>A | |
| ENST00000581790.5:c.895G>A | ||
| NM_000267.3:c.7847G>A , LRG_214t1:c.7847G>A | NP_000258.1:p.Arg2616Gln | |
| NM_001042492.2:c.7910G>A , LRG_214t2:c.7910G>A | NP_001035957.1:p.Arg2637Gln | |
| XM_005257983.1:c.7910G>A | XP_005258040.1:p.Arg2637Gln | |
| XM_005257984.1:c.7847G>A | XP_005258041.1:p.Arg2616Gln | |
| XM_006721922.1:c.7940G>A | XP_006721985.1:p.Arg2647Gln | |
| XM_006721923.2:c.7901G>A | XP_006721986.1:p.Arg2634Gln | |
| XM_006721924.1:c.7940G>A | XP_006721987.1:p.Arg2647Gln | |
| XM_006721925.1:c.7877G>A | XP_006721988.1:p.Arg2626Gln | |
| XM_006721926.2:c.7940G>A | XP_006721989.1:p.Arg2647Gln | |
| XM_006721927.1:c.7940G>A | XP_006721990.1:p.Arg2647Gln | |
| XM_011524852.1:c.7937G>A | XP_011523154.1:p.Arg2646Gln | |
| XM_011524853.1:c.7901G>A | XP_011523155.1:p.Arg2634Gln | |
| XM_011524854.1:c.7901G>A | XP_011523156.1:p.Arg2634Gln | |
| XM_011524855.1:c.7901G>A | XP_011523157.1:p.Arg2634Gln | |
| XM_011524856.1:c.7901G>A | XP_011523158.1:p.Arg2634Gln | |
| XM_011524857.1:c.7817G>A | XP_011523159.1:p.Arg2606Gln | |
| NM_001042492.3:c.7910G>A MANE Select | NP_001035957.1:p.Arg2637Gln |