Linked Data
ClinVar Variation Id:
216404
dbSNP Id:
rs751414513
ExAC:
17:29588833 G / A
gnomAD v2:
17-29588833-G-A
gnomAD v4:
17-31261815-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31261815G>A , CM000679.2:g.31261815G>A | GRCh38 |
| NC_000017.10:g.29588833G>A , CM000679.1:g.29588833G>A | GRCh37 |
| NC_000017.9:g.26612959G>A | NCBI36 |
| NG_009018.1:g.171839G>A , LRG_214:g.171839G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.484G>A | ENSP00000492721.2:p.Ala162Thr | |
| ENST00000696138.1:c.4664G>A | ENSP00000512431.1:p.Ser1555Asn | |
| ENST00000696140.1:n.788G>A | ||
| ENST00000696141.1:c.673G>A | ||
| ENST00000687863.1:n.1327G>A | ||
| ENST00000691014.1:c.4712G>A | ENSP00000510595.1:p.Ser1571Asn | |
| ENST00000358273.9:c.4682G>A MANE Select | ENSP00000351015.4:p.Ser1561Asn | |
| ENST00000356175.7:c.4619G>A | ENSP00000348498.3:p.Ser1540Asn | |
| ENST00000358273.8:c.4682G>A | ENSP00000351015.4:p.Ser1561Asn | |
| ENST00000456735.6:c.3617G>A | ENSP00000389907.2:p.Ser1206Asn | |
| ENST00000493220.5:n.3155G>A | ||
| ENST00000579081.5:c.4721G>A | ENSP00000462408.1:p.Ser1574Asn | |
| NM_000267.3:c.4619G>A , LRG_214t1:c.4619G>A | NP_000258.1:p.Ser1540Asn | |
| NM_001042492.2:c.4682G>A , LRG_214t2:c.4682G>A | NP_001035957.1:p.Ser1561Asn | |
| XM_005257983.1:c.4682G>A | XP_005258040.1:p.Ser1561Asn | |
| XM_005257984.1:c.4619G>A | XP_005258041.1:p.Ser1540Asn | |
| XM_006721922.1:c.4712G>A | XP_006721985.1:p.Ser1571Asn | |
| XM_006721923.2:c.4673G>A | XP_006721986.1:p.Ser1558Asn | |
| XM_006721924.1:c.4712G>A | XP_006721987.1:p.Ser1571Asn | |
| XM_006721925.1:c.4649G>A | XP_006721988.1:p.Ser1550Asn | |
| XM_006721926.2:c.4712G>A | XP_006721989.1:p.Ser1571Asn | |
| XM_006721927.1:c.4712G>A | XP_006721990.1:p.Ser1571Asn | |
| XM_006721928.2:c.4712G>A | XP_006721991.1:p.Ser1571Asn | |
| XM_011524852.1:c.4709G>A | XP_011523154.1:p.Ser1570Asn | |
| XM_011524853.1:c.4673G>A | XP_011523155.1:p.Ser1558Asn | |
| XM_011524854.1:c.4673G>A | XP_011523156.1:p.Ser1558Asn | |
| XM_011524855.1:c.4673G>A | XP_011523157.1:p.Ser1558Asn | |
| XM_011524856.1:c.4673G>A | XP_011523158.1:p.Ser1558Asn | |
| XM_011524857.1:c.4712G>A | XP_011523159.1:p.Ser1571Asn | |
| NM_001042492.3:c.4682G>A MANE Select | NP_001035957.1:p.Ser1561Asn |