Linked Data
ClinVar Variation Id:
142366
ClinVar RCV Id:
RCV000131449
RCV000216847
RCV000410978
RCV000412207
RCV000468535
RCV000588116
RCV002288648
dbSNP Id:
rs587782410
ExAC:
17:59763337 A / C
gnomAD v2:
17-59763337-A-C
gnomAD v3:
17-61685976-A-C
gnomAD v4:
17-61685976-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61685976A>C , CM000679.2:g.61685976A>C | GRCh38 |
| NC_000017.10:g.59763337A>C , CM000679.1:g.59763337A>C | GRCh37 |
| NC_000017.9:g.57118119A>C | NCBI36 |
| NG_007409.2:g.182584T>G , LRG_300:g.182584T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2895T>G | ENSP00000507191.1:n.2895T>G | |
| ENST00000682073.1:n.1505T>G | ||
| ENST00000682433.1:n.1844T>G | ||
| ENST00000682453.1:c.2765T>G | ENSP00000506943.1:p.Leu922Ter | |
| ENST00000682477.1:c.*2191T>G | ENSP00000507075.1:n.*2191T>G | |
| ENST00000682589.1:n.8642T>G | ||
| ENST00000682755.1:c.2543T>G | ENSP00000507660.1:p.Leu848Ter | |
| ENST00000682989.1:c.2610-1836T>G | ENSP00000507786.1:n.2610-1836T>G | |
| ENST00000683039.1:c.2765T>G | ENSP00000508303.1:p.Leu922Ter | |
| ENST00000683235.1:c.*180T>G | ENSP00000507646.1:n.*180T>G | |
| ENST00000683535.1:n.895T>G | ||
| ENST00000684471.1:n.1178T>G | ||
| ENST00000684584.1:c.2069-1836T>G | ENSP00000508044.1:n.2069-1836T>G | |
| ENST00000684626.1:n.1011T>G | ||
| ENST00000684769.1:c.955T>G | ENSP00000507691.1:n.955T>G | |
| ENST00000259008.7:c.2765T>G MANE Select | ENSP00000259008.2:p.Leu922Ter | |
| ENST00000259008.6:c.2765T>G | ENSP00000259008.2:p.Leu922Ter | |
| ENST00000577598.5:c.2765T>G | ENSP00000464654.1:p.Leu922Ter | |
| NM_032043.2:c.2765T>G , LRG_300t1:c.2765T>G | NP_114432.2:p.Leu922Ter | |
| XM_011525332.1:c.2825T>G | XP_011523634.1:p.Leu942Ter | |
| XM_011525333.1:c.2825T>G | XP_011523635.1:p.Leu942Ter | |
| XM_011525334.1:c.2825T>G | XP_011523636.1:p.Leu942Ter | |
| XM_011525335.1:c.2765T>G | XP_011523637.1:p.Leu922Ter | |
| XM_011525336.1:c.2705T>G | XP_011523638.1:p.Leu902Ter | |
| XM_011525337.1:c.2624T>G | XP_011523639.1:p.Leu875Ter | |
| XM_011525338.1:c.2342T>G | XP_011523640.1:p.Leu781Ter | |
| XM_011525332.3:c.2825T>G | XP_011523634.1:p.Leu942Ter | |
| XM_011525333.3:c.2825T>G | XP_011523635.1:p.Leu942Ter | |
| XM_011525334.2:c.2825T>G | XP_011523636.1:p.Leu942Ter | |
| XM_011525335.3:c.2765T>G | XP_011523637.1:p.Leu922Ter | |
| XM_011525336.2:c.2705T>G | XP_011523638.1:p.Leu902Ter | |
| XM_011525337.2:c.2624T>G | XP_011523639.1:p.Leu875Ter | |
| XM_011525338.2:c.2342T>G | XP_011523640.1:p.Leu781Ter | |
| XM_017025200.1:c.2282T>G | XP_016880689.1:p.Leu761Ter | |
| XM_017025201.1:c.2282T>G | XP_016880690.1:p.Leu761Ter | |
| XM_017025202.1:c.911T>G | XP_016880691.1:p.Leu304Ter | |
| XM_017025203.1:c.911T>G | XP_016880692.1:p.Leu304Ter | |
| NM_032043.3:c.2765T>G MANE Select | NP_114432.2:p.Leu922Ter |