Linked Data
ClinVar Variation Id:
530304
dbSNP Id:
rs1420431000
gnomAD v3:
17-61683816-A-C
gnomAD v4:
17-61683816-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683816A>C , CM000679.2:g.61683816A>C | GRCh38 |
| NC_000017.10:g.59761177A>C , CM000679.1:g.59761177A>C | GRCh37 |
| NC_000017.9:g.57115959A>C | NCBI36 |
| NG_007409.2:g.184744T>G , LRG_300:g.184744T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1970T>G | ||
| ENST00000682453.1:c.3230T>G | ENSP00000506943.1:p.Leu1077Ter | |
| ENST00000682477.1:c.*2656T>G | ENSP00000507075.1:n.*2656T>G | |
| ENST00000682589.1:n.9107T>G | ||
| ENST00000682755.1:c.3008T>G | ENSP00000507660.1:p.Leu1003Ter | |
| ENST00000682989.1:c.*321T>G | ENSP00000507786.1:n.*321T>G | |
| ENST00000683039.1:c.3230T>G | ENSP00000508303.1:p.Leu1077Ter | |
| ENST00000683235.1:c.*645T>G | ENSP00000507646.1:n.*645T>G | |
| ENST00000683535.1:n.1360T>G | ||
| ENST00000684584.1:c.2393T>G | ENSP00000508044.1:p.Leu798Ter | |
| ENST00000684626.1:n.1476T>G | ||
| ENST00000684769.1:c.1420T>G | ENSP00000507691.1:n.1420T>G | |
| ENST00000259008.7:c.3230T>G MANE Select | ENSP00000259008.2:p.Leu1077Ter | |
| ENST00000259008.6:c.3230T>G | ENSP00000259008.2:p.Leu1077Ter | |
| NM_032043.2:c.3230T>G , LRG_300t1:c.3230T>G | NP_114432.2:p.Leu1077Ter | |
| XM_011525332.1:c.3290T>G | XP_011523634.1:p.Leu1097Ter | |
| XM_011525333.1:c.3290T>G | XP_011523635.1:p.Leu1097Ter | |
| XM_011525334.1:c.3290T>G | XP_011523636.1:p.Leu1097Ter | |
| XM_011525335.1:c.3230T>G | XP_011523637.1:p.Leu1077Ter | |
| XM_011525336.1:c.3170T>G | XP_011523638.1:p.Leu1057Ter | |
| XM_011525337.1:c.3089T>G | XP_011523639.1:p.Leu1030Ter | |
| XM_011525338.1:c.2807T>G | XP_011523640.1:p.Leu936Ter | |
| XM_011525332.3:c.3290T>G | XP_011523634.1:p.Leu1097Ter | |
| XM_011525333.3:c.3290T>G | XP_011523635.1:p.Leu1097Ter | |
| XM_011525334.2:c.3290T>G | XP_011523636.1:p.Leu1097Ter | |
| XM_011525335.3:c.3230T>G | XP_011523637.1:p.Leu1077Ter | |
| XM_011525336.2:c.3170T>G | XP_011523638.1:p.Leu1057Ter | |
| XM_011525337.2:c.3089T>G | XP_011523639.1:p.Leu1030Ter | |
| XM_011525338.2:c.2807T>G | XP_011523640.1:p.Leu936Ter | |
| XM_017025200.1:c.2747T>G | XP_016880689.1:p.Leu916Ter | |
| XM_017025201.1:c.2747T>G | XP_016880690.1:p.Leu916Ter | |
| XM_017025202.1:c.1376T>G | XP_016880691.1:p.Leu459Ter | |
| XM_017025203.1:c.1376T>G | XP_016880692.1:p.Leu459Ter | |
| NM_032043.3:c.3230T>G MANE Select | NP_114432.2:p.Leu1077Ter |