Linked Data
ClinVar Variation Id:
1368493
ClinVar RCV Id:
RCV001894663
dbSNP Id:
rs2144085839
gnomAD v4:
17-61683877-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683877T>C , CM000679.2:g.61683877T>C | GRCh38 |
| NC_000017.10:g.59761238T>C , CM000679.1:g.59761238T>C | GRCh37 |
| NC_000017.9:g.57116020T>C | NCBI36 |
| NG_007409.2:g.184683A>G , LRG_300:g.184683A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1909A>G | ||
| ENST00000682453.1:c.3169A>G | ENSP00000506943.1:p.Asn1057Asp | |
| ENST00000682477.1:c.*2595A>G | ENSP00000507075.1:n.*2595A>G | |
| ENST00000682589.1:n.9046A>G | ||
| ENST00000682755.1:c.2947A>G | ENSP00000507660.1:p.Asn983Asp | |
| ENST00000682989.1:c.*260A>G | ENSP00000507786.1:n.*260A>G | |
| ENST00000683039.1:c.3169A>G | ENSP00000508303.1:p.Asn1057Asp | |
| ENST00000683235.1:c.*584A>G | ENSP00000507646.1:n.*584A>G | |
| ENST00000683535.1:n.1299A>G | ||
| ENST00000684584.1:c.2332A>G | ENSP00000508044.1:p.Asn778Asp | |
| ENST00000684626.1:n.1415A>G | ||
| ENST00000684769.1:c.1359A>G | ENSP00000507691.1:n.1359A>G | |
| ENST00000259008.7:c.3169A>G MANE Select | ENSP00000259008.2:p.Asn1057Asp | |
| ENST00000259008.6:c.3169A>G | ENSP00000259008.2:p.Asn1057Asp | |
| NM_032043.2:c.3169A>G , LRG_300t1:c.3169A>G | NP_114432.2:p.Asn1057Asp | |
| XM_011525332.1:c.3229A>G | XP_011523634.1:p.Asn1077Asp | |
| XM_011525333.1:c.3229A>G | XP_011523635.1:p.Asn1077Asp | |
| XM_011525334.1:c.3229A>G | XP_011523636.1:p.Asn1077Asp | |
| XM_011525335.1:c.3169A>G | XP_011523637.1:p.Asn1057Asp | |
| XM_011525336.1:c.3109A>G | XP_011523638.1:p.Asn1037Asp | |
| XM_011525337.1:c.3028A>G | XP_011523639.1:p.Asn1010Asp | |
| XM_011525338.1:c.2746A>G | XP_011523640.1:p.Asn916Asp | |
| XM_011525332.3:c.3229A>G | XP_011523634.1:p.Asn1077Asp | |
| XM_011525333.3:c.3229A>G | XP_011523635.1:p.Asn1077Asp | |
| XM_011525334.2:c.3229A>G | XP_011523636.1:p.Asn1077Asp | |
| XM_011525335.3:c.3169A>G | XP_011523637.1:p.Asn1057Asp | |
| XM_011525336.2:c.3109A>G | XP_011523638.1:p.Asn1037Asp | |
| XM_011525337.2:c.3028A>G | XP_011523639.1:p.Asn1010Asp | |
| XM_011525338.2:c.2746A>G | XP_011523640.1:p.Asn916Asp | |
| XM_017025200.1:c.2686A>G | XP_016880689.1:p.Asn896Asp | |
| XM_017025201.1:c.2686A>G | XP_016880690.1:p.Asn896Asp | |
| XM_017025202.1:c.1315A>G | XP_016880691.1:p.Asn439Asp | |
| XM_017025203.1:c.1315A>G | XP_016880692.1:p.Asn439Asp | |
| NM_032043.3:c.3169A>G MANE Select | NP_114432.2:p.Asn1057Asp |