Linked Data
ClinVar Variation Id:
288276
dbSNP Id:
rs752598065
ExAC:
1:156108499 A / G
gnomAD v2:
1-156108499-A-G
gnomAD v3:
1-156138708-A-G
gnomAD v4:
1-156138708-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138708A>G , CM000663.2:g.156138708A>G | GRCh38 |
| NC_000001.10:g.156108499A>G , CM000663.1:g.156108499A>G | GRCh37 |
| NC_000001.9:g.154375123A>G | NCBI36 |
| NG_008692.2:g.61136A>G , LRG_254:g.61136A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1361A>G | ENSP00000426535.3:p.Asn454Ser | |
| ENST00000682650.1:c.1829A>G | ENSP00000506904.1:p.Asn610Ser | |
| ENST00000683032.1:c.1919A>G | ENSP00000506771.1:p.Asn640Ser | |
| ENST00000683773.1:n.163+101A>G | ||
| ENST00000684195.1:c.*1011A>G | ENSP00000508220.1:n.*1011A>G | |
| ENST00000361308.9:c.1919A>G | ENSP00000355292.6:p.Asn640Ser | |
| ENST00000368300.9:c.1919A>G MANE Select | ENSP00000357283.4:p.Asn640Ser | |
| ENST00000674518.1:c.*1269A>G | ENSP00000502261.1:n.*1269A>G | |
| ENST00000674600.1:c.*1718A>G | ENSP00000501666.1:n.*1718A>G | |
| ENST00000675455.1:c.*1719A>G | ENSP00000501795.1:n.*1719A>G | |
| ENST00000675667.1:c.1919A>G | ENSP00000501803.1:p.Asn640Ser | |
| ENST00000675874.1:c.*1390A>G | ENSP00000501851.1:n.*1390A>G | |
| ENST00000675881.1:c.*930A>G | ENSP00000501670.1:n.*930A>G | |
| ENST00000675939.1:c.1919A>G | ENSP00000502256.1:p.Asn640Ser | |
| ENST00000675989.1:n.3522A>G | ||
| ENST00000676208.1:c.*1022A>G | ENSP00000502468.1:n.*1022A>G | |
| ENST00000676385.2:c.1829A>G | ENSP00000502091.1:p.Asn610Ser | |
| ENST00000676434.1:c.*1674A>G | ENSP00000501648.1:n.*1674A>G | |
| ENST00000347559.6:c.1829A>G | ENSP00000292304.3:p.Asn610Ser | |
| ENST00000368299.7:c.1818+101A>G | ENSP00000357282.3:n.1818+101A>G | |
| ENST00000368300.8:c.1919A>G | ENSP00000357283.4:p.Asn640Ser | |
| ENST00000448611.6:c.1583A>G | ENSP00000395597.2:p.Asn528Ser | |
| ENST00000473598.6:c.1622A>G | ENSP00000421821.1:p.Asn541Ser | |
| ENST00000496738.5:n.2132A>G | ||
| ENST00000506981.1:n.503A>G | ||
| ENST00000508500.1:c.707A>G | ENSP00000424977.1:p.Asn236Ser | |
| NM_001257374.2:c.1583A>G | NP_001244303.1:p.Asn528Ser | |
| NM_001282626.1:c.1818+101A>G | NP_001269555.1:n.1818+101A>G | |
| NM_170707.3:c.1919A>G | NP_733821.1:p.Asn640Ser | |
| NM_170708.3:c.1829A>G | NP_733822.1:p.Asn610Ser | |
| XM_011509533.1:c.1583A>G | XP_011507835.1:p.Asn528Ser | |
| XM_011509534.1:c.1295A>G | XP_011507836.1:p.Asn432Ser | |
| XR_921781.1:n.2208A>G | ||
| XM_011509534.2:c.1295A>G | XP_011507836.1:p.Asn432Ser | |
| XR_921781.2:n.2206A>G | ||
| NM_170707.4:c.1919A>G MANE Select | NP_733821.1:p.Asn640Ser | |
| NM_001257374.3:c.1583A>G | NP_001244303.1:p.Asn528Ser | |
| NM_001282626.2:c.1818+101A>G | NP_001269555.1:n.1818+101A>G | |
| NM_170708.4:c.1829A>G | NP_733822.1:p.Asn610Ser |