Linked Data
ClinVar Variation Id:
220078
dbSNP Id:
rs864622373
gnomAD v2:
17-29653257-A-G
gnomAD v3:
17-31326239-A-G
gnomAD v4:
17-31326239-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31326239A>G , CM000679.2:g.31326239A>G | GRCh38 |
| NC_000017.10:g.29653257A>G , CM000679.1:g.29653257A>G | GRCh37 |
| NC_000017.9:g.26677383A>G | NCBI36 |
| NG_009018.1:g.236263A>G , LRG_214:g.236263A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1443A>G | ENSP00000492721.2:n.1443A>G | |
| ENST00000696138.1:c.5237A>G | ENSP00000512431.1:p.Lys1746Arg | |
| ENST00000684826.1:c.-182A>G | ENSP00000509994.1:n.-182A>G | |
| ENST00000687027.1:c.-249A>G | ENSP00000508715.1:n.-249A>G | |
| ENST00000687863.1:n.1900A>G | ||
| ENST00000691014.1:c.5285A>G | ENSP00000510595.1:p.Lys1762Arg | |
| ENST00000693617.1:c.-182A>G | ENSP00000510031.1:n.-182A>G | |
| ENST00000358273.9:c.5255A>G MANE Select | ENSP00000351015.4:p.Lys1752Arg | |
| ENST00000356175.7:c.5192A>G | ENSP00000348498.3:p.Lys1731Arg | |
| ENST00000358273.8:c.5255A>G | ENSP00000351015.4:p.Lys1752Arg | |
| ENST00000456735.6:c.4190A>G | ENSP00000389907.2:p.Lys1397Arg | |
| ENST00000493220.5:n.3728A>G | ||
| ENST00000579081.5:c.5391A>G | ENSP00000462408.1:n.5391A>G | |
| ENST00000581113.6:n.572A>G | ||
| NM_000267.3:c.5192A>G , LRG_214t1:c.5192A>G | NP_000258.1:p.Lys1731Arg | |
| NM_001042492.2:c.5255A>G , LRG_214t2:c.5255A>G | NP_001035957.1:p.Lys1752Arg | |
| XM_005257983.1:c.5255A>G | XP_005258040.1:p.Lys1752Arg | |
| XM_005257984.1:c.5192A>G | XP_005258041.1:p.Lys1731Arg | |
| XM_006721922.1:c.5285A>G | XP_006721985.1:p.Lys1762Arg | |
| XM_006721923.2:c.5246A>G | XP_006721986.1:p.Lys1749Arg | |
| XM_006721924.1:c.5285A>G | XP_006721987.1:p.Lys1762Arg | |
| XM_006721925.1:c.5222A>G | XP_006721988.1:p.Lys1741Arg | |
| XM_006721926.2:c.5285A>G | XP_006721989.1:p.Lys1762Arg | |
| XM_006721927.1:c.5285A>G | XP_006721990.1:p.Lys1762Arg | |
| XM_011524852.1:c.5282A>G | XP_011523154.1:p.Lys1761Arg | |
| XM_011524853.1:c.5246A>G | XP_011523155.1:p.Lys1749Arg | |
| XM_011524854.1:c.5246A>G | XP_011523156.1:p.Lys1749Arg | |
| XM_011524855.1:c.5246A>G | XP_011523157.1:p.Lys1749Arg | |
| XM_011524856.1:c.5246A>G | XP_011523158.1:p.Lys1749Arg | |
| XM_011524857.1:c.5285A>G | XP_011523159.1:p.Lys1762Arg | |
| NM_001042492.3:c.5255A>G MANE Select | NP_001035957.1:p.Lys1752Arg |