Linked Data
ClinVar Variation Id:
457845
dbSNP Id:
rs752162999
ExAC:
17:29677335 A / G
gnomAD v2:
17-29677335-A-G
gnomAD v4:
17-31350317-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31350317A>G , CM000679.2:g.31350317A>G | GRCh38 |
| NC_000017.10:g.29677335A>G , CM000679.1:g.29677335A>G | GRCh37 |
| NC_000017.9:g.26701461A>G | NCBI36 |
| NG_009018.1:g.260341A>G , LRG_214:g.260341A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7438A>G | ENSP00000512431.1:p.Arg2480Gly | |
| ENST00000684826.1:c.2020A>G | ENSP00000509994.1:p.Arg674Gly | |
| ENST00000687027.1:c.1612A>G | ENSP00000508715.1:p.Arg538Gly | |
| ENST00000687863.1:n.4101A>G | ||
| ENST00000689464.1:c.506A>G | ||
| ENST00000691014.1:c.7486A>G | ENSP00000510595.1:p.Arg2496Gly | |
| ENST00000693617.1:c.2020A>G | ENSP00000510031.1:p.Arg674Gly | |
| ENST00000358273.9:c.7456A>G MANE Select | ENSP00000351015.4:p.Arg2486Gly | |
| ENST00000356175.7:c.7393A>G | ENSP00000348498.3:p.Arg2465Gly | |
| ENST00000358273.8:c.7456A>G | ENSP00000351015.4:p.Arg2486Gly | |
| ENST00000456735.6:c.6391A>G | ENSP00000389907.2:p.Arg2131Gly | |
| ENST00000471572.6:c.839A>G | ||
| ENST00000579081.5:c.7592A>G | ENSP00000462408.1:n.7592A>G | |
| ENST00000581790.5:c.599A>G | ||
| NM_000267.3:c.7393A>G , LRG_214t1:c.7393A>G | NP_000258.1:p.Arg2465Gly | |
| NM_001042492.2:c.7456A>G , LRG_214t2:c.7456A>G | NP_001035957.1:p.Arg2486Gly | |
| XM_005257983.1:c.7456A>G | XP_005258040.1:p.Arg2486Gly | |
| XM_005257984.1:c.7393A>G | XP_005258041.1:p.Arg2465Gly | |
| XM_006721922.1:c.7486A>G | XP_006721985.1:p.Arg2496Gly | |
| XM_006721923.2:c.7447A>G | XP_006721986.1:p.Arg2483Gly | |
| XM_006721924.1:c.7486A>G | XP_006721987.1:p.Arg2496Gly | |
| XM_006721925.1:c.7423A>G | XP_006721988.1:p.Arg2475Gly | |
| XM_006721926.2:c.7486A>G | XP_006721989.1:p.Arg2496Gly | |
| XM_006721927.1:c.7486A>G | XP_006721990.1:p.Arg2496Gly | |
| XM_011524852.1:c.7483A>G | XP_011523154.1:p.Arg2495Gly | |
| XM_011524853.1:c.7447A>G | XP_011523155.1:p.Arg2483Gly | |
| XM_011524854.1:c.7447A>G | XP_011523156.1:p.Arg2483Gly | |
| XM_011524855.1:c.7447A>G | XP_011523157.1:p.Arg2483Gly | |
| XM_011524856.1:c.7447A>G | XP_011523158.1:p.Arg2483Gly | |
| XM_011524857.1:c.7486A>G | XP_011523159.1:p.Arg2496Gly | |
| NM_001042492.3:c.7456A>G MANE Select | NP_001035957.1:p.Arg2486Gly |