Linked Data
ClinVar Variation Id:
232946
dbSNP Id:
rs876660093
gnomAD v2:
17-29586126-G-A
gnomAD v3:
17-31259108-G-A
gnomAD v4:
17-31259108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31259108G>A , CM000679.2:g.31259108G>A | GRCh38 |
| NC_000017.10:g.29586126G>A , CM000679.1:g.29586126G>A | GRCh37 |
| NC_000017.9:g.26610252G>A | NCBI36 |
| NG_009018.1:g.169132G>A , LRG_214:g.169132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.197G>A | ENSP00000492721.2:p.Ser66Asn | |
| ENST00000696138.1:c.4391G>A | ENSP00000512431.1:p.Ser1464Asn | |
| ENST00000696140.1:n.515G>A | ||
| ENST00000696141.1:c.400G>A | ||
| ENST00000687863.1:n.1054G>A | ||
| ENST00000691014.1:c.4439G>A | ENSP00000510595.1:p.Ser1480Asn | |
| ENST00000691649.1:n.381G>A | ||
| ENST00000358273.9:c.4409G>A MANE Select | ENSP00000351015.4:p.Ser1470Asn | |
| ENST00000356175.7:c.4346G>A | ENSP00000348498.3:p.Ser1449Asn | |
| ENST00000358273.8:c.4409G>A | ENSP00000351015.4:p.Ser1470Asn | |
| ENST00000456735.6:c.3344G>A | ENSP00000389907.2:p.Ser1115Asn | |
| ENST00000466819.5:c.925G>A | ||
| ENST00000479614.1:c.862G>A | ||
| ENST00000493220.5:n.2882G>A | ||
| ENST00000579081.5:c.4448G>A | ENSP00000462408.1:p.Ser1483Asn | |
| NM_000267.3:c.4346G>A , LRG_214t1:c.4346G>A | NP_000258.1:p.Ser1449Asn | |
| NM_001042492.2:c.4409G>A , LRG_214t2:c.4409G>A | NP_001035957.1:p.Ser1470Asn | |
| XM_005257983.1:c.4409G>A | XP_005258040.1:p.Ser1470Asn | |
| XM_005257984.1:c.4346G>A | XP_005258041.1:p.Ser1449Asn | |
| XM_006721922.1:c.4439G>A | XP_006721985.1:p.Ser1480Asn | |
| XM_006721923.2:c.4400G>A | XP_006721986.1:p.Ser1467Asn | |
| XM_006721924.1:c.4439G>A | XP_006721987.1:p.Ser1480Asn | |
| XM_006721925.1:c.4376G>A | XP_006721988.1:p.Ser1459Asn | |
| XM_006721926.2:c.4439G>A | XP_006721989.1:p.Ser1480Asn | |
| XM_006721927.1:c.4439G>A | XP_006721990.1:p.Ser1480Asn | |
| XM_006721928.2:c.4439G>A | XP_006721991.1:p.Ser1480Asn | |
| XM_011524852.1:c.4436G>A | XP_011523154.1:p.Ser1479Asn | |
| XM_011524853.1:c.4400G>A | XP_011523155.1:p.Ser1467Asn | |
| XM_011524854.1:c.4400G>A | XP_011523156.1:p.Ser1467Asn | |
| XM_011524855.1:c.4400G>A | XP_011523157.1:p.Ser1467Asn | |
| XM_011524856.1:c.4400G>A | XP_011523158.1:p.Ser1467Asn | |
| XM_011524857.1:c.4439G>A | XP_011523159.1:p.Ser1480Asn | |
| NM_001042492.3:c.4409G>A MANE Select | NP_001035957.1:p.Ser1470Asn |