Linked Data
ClinVar Variation Id:
182330
ClinVar RCV Id:
RCV000160319
RCV000212323
RCV000477092
RCV000663309
RCV000781178
RCV001194708
RCV003315951
dbSNP Id:
rs730881622
gnomAD v3:
17-61716053-T-C
gnomAD v4:
17-61716053-T-C
PubMed:
PMID:23613520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61716053T>C , CM000679.2:g.61716053T>C | GRCh38 |
| NC_000017.10:g.59793414T>C , CM000679.1:g.59793414T>C | GRCh37 |
| NC_000017.9:g.57148196T>C | NCBI36 |
| NG_007409.2:g.152507A>G , LRG_300:g.152507A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2520A>G | ENSP00000507191.1:n.2520A>G | |
| ENST00000682073.1:n.1130A>G | ||
| ENST00000682433.1:n.1469A>G | ||
| ENST00000682453.1:c.2390A>G | ENSP00000506943.1:p.Lys797Arg | |
| ENST00000682477.1:c.*1816A>G | ENSP00000507075.1:n.*1816A>G | |
| ENST00000682589.1:n.8267A>G | ||
| ENST00000682755.1:c.2168A>G | ENSP00000507660.1:p.Lys723Arg | |
| ENST00000682989.1:c.2390A>G | ENSP00000507786.1:p.Lys797Arg | |
| ENST00000683039.1:c.2390A>G | ENSP00000508303.1:p.Lys797Arg | |
| ENST00000683235.1:c.2390A>G | ENSP00000507646.1:p.Lys797Arg | |
| ENST00000683535.1:n.520A>G | ||
| ENST00000684471.1:n.803A>G | ||
| ENST00000684584.1:c.1883A>G | ENSP00000508044.1:p.Lys628Arg | |
| ENST00000684626.1:n.719A>G | ||
| ENST00000684769.1:c.455A>G | ENSP00000507691.1:p.Lys152Arg | |
| ENST00000259008.7:c.2390A>G MANE Select | ENSP00000259008.2:p.Lys797Arg | |
| ENST00000259008.6:c.2390A>G | ENSP00000259008.2:p.Lys797Arg | |
| ENST00000577598.5:c.2390A>G | ENSP00000464654.1:p.Lys797Arg | |
| NM_032043.2:c.2390A>G , LRG_300t1:c.2390A>G | NP_114432.2:p.Lys797Arg | |
| XM_011525332.1:c.2450A>G | XP_011523634.1:p.Lys817Arg | |
| XM_011525333.1:c.2450A>G | XP_011523635.1:p.Lys817Arg | |
| XM_011525334.1:c.2450A>G | XP_011523636.1:p.Lys817Arg | |
| XM_011525335.1:c.2390A>G | XP_011523637.1:p.Lys797Arg | |
| XM_011525336.1:c.2330A>G | XP_011523638.1:p.Lys777Arg | |
| XM_011525337.1:c.2249A>G | XP_011523639.1:p.Lys750Arg | |
| XM_011525338.1:c.1967A>G | XP_011523640.1:p.Lys656Arg | |
| XM_011525339.1:c.*31A>G | XP_011523641.1:n.*31A>G | |
| XM_011525340.1:c.2450A>G | XP_011523642.1:p.Lys817Arg | |
| XM_011525332.3:c.2450A>G | XP_011523634.1:p.Lys817Arg | |
| XM_011525333.3:c.2450A>G | XP_011523635.1:p.Lys817Arg | |
| XM_011525334.2:c.2450A>G | XP_011523636.1:p.Lys817Arg | |
| XM_011525335.3:c.2390A>G | XP_011523637.1:p.Lys797Arg | |
| XM_011525336.2:c.2330A>G | XP_011523638.1:p.Lys777Arg | |
| XM_011525337.2:c.2249A>G | XP_011523639.1:p.Lys750Arg | |
| XM_011525338.2:c.1967A>G | XP_011523640.1:p.Lys656Arg | |
| XM_011525339.3:c.*31A>G | XP_011523641.1:n.*31A>G | |
| XM_011525340.3:c.2450A>G | XP_011523642.1:p.Lys817Arg | |
| XM_017025200.1:c.1907A>G | XP_016880689.1:p.Lys636Arg | |
| XM_017025201.1:c.1907A>G | XP_016880690.1:p.Lys636Arg | |
| XM_017025202.1:c.536A>G | XP_016880691.1:p.Lys179Arg | |
| XM_017025203.1:c.536A>G | XP_016880692.1:p.Lys179Arg | |
| NM_032043.3:c.2390A>G MANE Select | NP_114432.2:p.Lys797Arg |