Linked Data
ClinVar Variation Id:
407875
dbSNP Id:
rs781102464
gnomAD v3:
17-61683738-A-T
gnomAD v4:
17-61683738-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683738A>T , CM000679.2:g.61683738A>T | GRCh38 |
| NC_000017.10:g.59761099A>T , CM000679.1:g.59761099A>T | GRCh37 |
| NC_000017.9:g.57115881A>T | NCBI36 |
| NG_007409.2:g.184822T>A , LRG_300:g.184822T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2048T>A | ||
| ENST00000682453.1:c.3308T>A | ENSP00000506943.1:p.Ile1103Asn | |
| ENST00000682477.1:c.*2734T>A | ENSP00000507075.1:n.*2734T>A | |
| ENST00000682589.1:n.9185T>A | ||
| ENST00000682755.1:c.3086T>A | ENSP00000507660.1:p.Ile1029Asn | |
| ENST00000682989.1:c.*399T>A | ENSP00000507786.1:n.*399T>A | |
| ENST00000683039.1:c.3308T>A | ENSP00000508303.1:p.Ile1103Asn | |
| ENST00000683235.1:c.*723T>A | ENSP00000507646.1:n.*723T>A | |
| ENST00000683535.1:n.1438T>A | ||
| ENST00000684584.1:c.2471T>A | ENSP00000508044.1:p.Ile824Asn | |
| ENST00000684626.1:n.1554T>A | ||
| ENST00000684769.1:c.1498T>A | ENSP00000507691.1:n.1498T>A | |
| ENST00000259008.7:c.3308T>A MANE Select | ENSP00000259008.2:p.Ile1103Asn | |
| ENST00000259008.6:c.3308T>A | ENSP00000259008.2:p.Ile1103Asn | |
| NM_032043.2:c.3308T>A , LRG_300t1:c.3308T>A | NP_114432.2:p.Ile1103Asn | |
| XM_011525332.1:c.3368T>A | XP_011523634.1:p.Ile1123Asn | |
| XM_011525333.1:c.3368T>A | XP_011523635.1:p.Ile1123Asn | |
| XM_011525334.1:c.3368T>A | XP_011523636.1:p.Ile1123Asn | |
| XM_011525335.1:c.3308T>A | XP_011523637.1:p.Ile1103Asn | |
| XM_011525336.1:c.3248T>A | XP_011523638.1:p.Ile1083Asn | |
| XM_011525337.1:c.3167T>A | XP_011523639.1:p.Ile1056Asn | |
| XM_011525338.1:c.2885T>A | XP_011523640.1:p.Ile962Asn | |
| XM_011525332.3:c.3368T>A | XP_011523634.1:p.Ile1123Asn | |
| XM_011525333.3:c.3368T>A | XP_011523635.1:p.Ile1123Asn | |
| XM_011525334.2:c.3368T>A | XP_011523636.1:p.Ile1123Asn | |
| XM_011525335.3:c.3308T>A | XP_011523637.1:p.Ile1103Asn | |
| XM_011525336.2:c.3248T>A | XP_011523638.1:p.Ile1083Asn | |
| XM_011525337.2:c.3167T>A | XP_011523639.1:p.Ile1056Asn | |
| XM_011525338.2:c.2885T>A | XP_011523640.1:p.Ile962Asn | |
| XM_017025200.1:c.2825T>A | XP_016880689.1:p.Ile942Asn | |
| XM_017025201.1:c.2825T>A | XP_016880690.1:p.Ile942Asn | |
| XM_017025202.1:c.1454T>A | XP_016880691.1:p.Ile485Asn | |
| XM_017025203.1:c.1454T>A | XP_016880692.1:p.Ile485Asn | |
| NM_032043.3:c.3308T>A MANE Select | NP_114432.2:p.Ile1103Asn |