Linked Data
ClinVar Variation Id:
232950
ClinVar RCV Id:
RCV000214349
RCV000215700
RCV000227974
RCV000709536
RCV000989990
RCV001194733
RCV000662447
RCV001030466
dbSNP Id:
rs200239986
ExAC:
17:59763248 T / C
gnomAD v2:
17-59763248-T-C
gnomAD v3:
17-61685887-T-C
gnomAD v4:
17-61685887-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61685887T>C , CM000679.2:g.61685887T>C | GRCh38 |
| NC_000017.10:g.59763248T>C , CM000679.1:g.59763248T>C | GRCh37 |
| NC_000017.9:g.57118030T>C | NCBI36 |
| NG_007409.2:g.182673A>G , LRG_300:g.182673A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2984A>G | ENSP00000507191.1:n.2984A>G | |
| ENST00000682073.1:n.1594A>G | ||
| ENST00000682433.1:n.1933A>G | ||
| ENST00000682453.1:c.2854A>G | ENSP00000506943.1:p.Ile952Val | |
| ENST00000682477.1:c.*2280A>G | ENSP00000507075.1:n.*2280A>G | |
| ENST00000682589.1:n.8731A>G | ||
| ENST00000682755.1:c.2632A>G | ENSP00000507660.1:p.Ile878Val | |
| ENST00000682989.1:c.2610-1747A>G | ENSP00000507786.1:n.2610-1747A>G | |
| ENST00000683039.1:c.2854A>G | ENSP00000508303.1:p.Ile952Val | |
| ENST00000683235.1:c.*269A>G | ENSP00000507646.1:n.*269A>G | |
| ENST00000683535.1:n.984A>G | ||
| ENST00000684471.1:n.1267A>G | ||
| ENST00000684584.1:c.2069-1747A>G | ENSP00000508044.1:n.2069-1747A>G | |
| ENST00000684626.1:n.1100A>G | ||
| ENST00000684769.1:c.1044A>G | ENSP00000507691.1:n.1044A>G | |
| ENST00000259008.7:c.2854A>G MANE Select | ENSP00000259008.2:p.Ile952Val | |
| ENST00000259008.6:c.2854A>G | ENSP00000259008.2:p.Ile952Val | |
| ENST00000577598.5:c.2854A>G | ENSP00000464654.1:p.Ile952Val | |
| NM_032043.2:c.2854A>G , LRG_300t1:c.2854A>G | NP_114432.2:p.Ile952Val | |
| XM_011525332.1:c.2914A>G | XP_011523634.1:p.Ile972Val | |
| XM_011525333.1:c.2914A>G | XP_011523635.1:p.Ile972Val | |
| XM_011525334.1:c.2914A>G | XP_011523636.1:p.Ile972Val | |
| XM_011525335.1:c.2854A>G | XP_011523637.1:p.Ile952Val | |
| XM_011525336.1:c.2794A>G | XP_011523638.1:p.Ile932Val | |
| XM_011525337.1:c.2713A>G | XP_011523639.1:p.Ile905Val | |
| XM_011525338.1:c.2431A>G | XP_011523640.1:p.Ile811Val | |
| XM_011525332.3:c.2914A>G | XP_011523634.1:p.Ile972Val | |
| XM_011525333.3:c.2914A>G | XP_011523635.1:p.Ile972Val | |
| XM_011525334.2:c.2914A>G | XP_011523636.1:p.Ile972Val | |
| XM_011525335.3:c.2854A>G | XP_011523637.1:p.Ile952Val | |
| XM_011525336.2:c.2794A>G | XP_011523638.1:p.Ile932Val | |
| XM_011525337.2:c.2713A>G | XP_011523639.1:p.Ile905Val | |
| XM_011525338.2:c.2431A>G | XP_011523640.1:p.Ile811Val | |
| XM_017025200.1:c.2371A>G | XP_016880689.1:p.Ile791Val | |
| XM_017025201.1:c.2371A>G | XP_016880690.1:p.Ile791Val | |
| XM_017025202.1:c.1000A>G | XP_016880691.1:p.Ile334Val | |
| XM_017025203.1:c.1000A>G | XP_016880692.1:p.Ile334Val | |
| NM_032043.3:c.2854A>G MANE Select | NP_114432.2:p.Ile952Val |