Linked Data
ClinVar Variation Id:
229897
dbSNP Id:
rs757225144
ExAC:
17:59761413 C / G
gnomAD v2:
17-59761413-C-G
gnomAD v4:
17-61684052-C-G
MyVariant Identifiers:
chr17:g.59761413C>G (hg19)
chr17:g.59761413_59761417delinsGTTTG (hg19)
chr17:g.61684052C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61684052C>G , CM000679.2:g.61684052C>G | GRCh38 |
| NC_000017.10:g.59761413C>G , CM000679.1:g.59761413C>G | GRCh37 |
| NC_000017.9:g.57116195C>G | NCBI36 |
| NG_007409.2:g.184508G>C , LRG_300:g.184508G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1734G>C | ||
| ENST00000682453.1:c.2994G>C | ENSP00000506943.1:p.Lys998Asn | |
| ENST00000682477.1:c.*2420G>C | ENSP00000507075.1:n.*2420G>C | |
| ENST00000682589.1:n.8871G>C | ||
| ENST00000682755.1:c.2772G>C | ENSP00000507660.1:p.Lys924Asn | |
| ENST00000682989.1:c.*85G>C | ENSP00000507786.1:n.*85G>C | |
| ENST00000683039.1:c.2994G>C | ENSP00000508303.1:p.Lys998Asn | |
| ENST00000683235.1:c.*409G>C | ENSP00000507646.1:n.*409G>C | |
| ENST00000683535.1:n.1124G>C | ||
| ENST00000684584.1:c.2157G>C | ENSP00000508044.1:p.Lys719Asn | |
| ENST00000684626.1:n.1240G>C | ||
| ENST00000684769.1:c.1184G>C | ENSP00000507691.1:n.1184G>C | |
| ENST00000259008.7:c.2994G>C MANE Select | ENSP00000259008.2:p.Lys998Asn | |
| ENST00000259008.6:c.2994G>C | ENSP00000259008.2:p.Lys998Asn | |
| NM_032043.2:c.2994G>C , LRG_300t1:c.2994G>C | NP_114432.2:p.Lys998Asn | |
| XM_011525332.1:c.3054G>C | XP_011523634.1:p.Lys1018Asn | |
| XM_011525333.1:c.3054G>C | XP_011523635.1:p.Lys1018Asn | |
| XM_011525334.1:c.3054G>C | XP_011523636.1:p.Lys1018Asn | |
| XM_011525335.1:c.2994G>C | XP_011523637.1:p.Lys998Asn | |
| XM_011525336.1:c.2934G>C | XP_011523638.1:p.Lys978Asn | |
| XM_011525337.1:c.2853G>C | XP_011523639.1:p.Lys951Asn | |
| XM_011525338.1:c.2571G>C | XP_011523640.1:p.Lys857Asn | |
| XM_011525332.3:c.3054G>C | XP_011523634.1:p.Lys1018Asn | |
| XM_011525333.3:c.3054G>C | XP_011523635.1:p.Lys1018Asn | |
| XM_011525334.2:c.3054G>C | XP_011523636.1:p.Lys1018Asn | |
| XM_011525335.3:c.2994G>C | XP_011523637.1:p.Lys998Asn | |
| XM_011525336.2:c.2934G>C | XP_011523638.1:p.Lys978Asn | |
| XM_011525337.2:c.2853G>C | XP_011523639.1:p.Lys951Asn | |
| XM_011525338.2:c.2571G>C | XP_011523640.1:p.Lys857Asn | |
| XM_017025200.1:c.2511G>C | XP_016880689.1:p.Lys837Asn | |
| XM_017025201.1:c.2511G>C | XP_016880690.1:p.Lys837Asn | |
| XM_017025202.1:c.1140G>C | XP_016880691.1:p.Lys380Asn | |
| XM_017025203.1:c.1140G>C | XP_016880692.1:p.Lys380Asn | |
| NM_032043.3:c.2994G>C MANE Select | NP_114432.2:p.Lys998Asn |