Linked Data
ClinVar Variation Id:
823775
dbSNP Id:
rs1603275034
gnomAD v3:
17-61683605-A-C
gnomAD v4:
17-61683605-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683605A>C , CM000679.2:g.61683605A>C | GRCh38 |
| NC_000017.10:g.59760966A>C , CM000679.1:g.59760966A>C | GRCh37 |
| NC_000017.9:g.57115748A>C | NCBI36 |
| NG_007409.2:g.184955T>G , LRG_300:g.184955T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2181T>G | ||
| ENST00000682453.1:c.3441T>G | ENSP00000506943.1:p.Asn1147Lys | |
| ENST00000682477.1:c.*2867T>G | ENSP00000507075.1:n.*2867T>G | |
| ENST00000682589.1:n.9318T>G | ||
| ENST00000682755.1:c.3219T>G | ENSP00000507660.1:p.Asn1073Lys | |
| ENST00000682989.1:c.*532T>G | ENSP00000507786.1:n.*532T>G | |
| ENST00000683039.1:c.3441T>G | ENSP00000508303.1:p.Asn1147Lys | |
| ENST00000683235.1:c.*856T>G | ENSP00000507646.1:n.*856T>G | |
| ENST00000683535.1:n.1571T>G | ||
| ENST00000684584.1:c.2604T>G | ENSP00000508044.1:p.Asn868Lys | |
| ENST00000684626.1:n.1687T>G | ||
| ENST00000684769.1:c.1631T>G | ENSP00000507691.1:n.1631T>G | |
| ENST00000259008.7:c.3441T>G MANE Select | ENSP00000259008.2:p.Asn1147Lys | |
| ENST00000259008.6:c.3441T>G | ENSP00000259008.2:p.Asn1147Lys | |
| NM_032043.2:c.3441T>G , LRG_300t1:c.3441T>G | NP_114432.2:p.Asn1147Lys | |
| XM_011525332.1:c.3501T>G | XP_011523634.1:p.Asn1167Lys | |
| XM_011525333.1:c.3501T>G | XP_011523635.1:p.Asn1167Lys | |
| XM_011525334.1:c.3501T>G | XP_011523636.1:p.Asn1167Lys | |
| XM_011525335.1:c.3441T>G | XP_011523637.1:p.Asn1147Lys | |
| XM_011525336.1:c.3381T>G | XP_011523638.1:p.Asn1127Lys | |
| XM_011525337.1:c.3300T>G | XP_011523639.1:p.Asn1100Lys | |
| XM_011525338.1:c.3018T>G | XP_011523640.1:p.Asn1006Lys | |
| XM_011525332.3:c.3501T>G | XP_011523634.1:p.Asn1167Lys | |
| XM_011525333.3:c.3501T>G | XP_011523635.1:p.Asn1167Lys | |
| XM_011525334.2:c.3501T>G | XP_011523636.1:p.Asn1167Lys | |
| XM_011525335.3:c.3441T>G | XP_011523637.1:p.Asn1147Lys | |
| XM_011525336.2:c.3381T>G | XP_011523638.1:p.Asn1127Lys | |
| XM_011525337.2:c.3300T>G | XP_011523639.1:p.Asn1100Lys | |
| XM_011525338.2:c.3018T>G | XP_011523640.1:p.Asn1006Lys | |
| XM_017025200.1:c.2958T>G | XP_016880689.1:p.Asn986Lys | |
| XM_017025201.1:c.2958T>G | XP_016880690.1:p.Asn986Lys | |
| XM_017025202.1:c.1587T>G | XP_016880691.1:p.Asn529Lys | |
| XM_017025203.1:c.1587T>G | XP_016880692.1:p.Asn529Lys | |
| NM_032043.3:c.3441T>G MANE Select | NP_114432.2:p.Asn1147Lys |