Linked Data
ClinVar Variation Id:
457872
dbSNP Id:
rs934837854
gnomAD v2:
17-29701109-G-A
gnomAD v3:
17-31374091-G-A
gnomAD v4:
17-31374091-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31374091G>A , CM000679.2:g.31374091G>A | GRCh38 |
| NC_000017.10:g.29701109G>A , CM000679.1:g.29701109G>A | GRCh37 |
| NC_000017.9:g.26725235G>A | NCBI36 |
| NG_009018.1:g.284115G>A , LRG_214:g.284115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.*91G>A | ENSP00000512431.1:n.*91G>A | |
| ENST00000684826.1:c.3074G>A | ENSP00000509994.1:p.Ser1025Asn | |
| ENST00000687027.1:c.2612G>A | ENSP00000508715.1:p.Ser871Asn | |
| ENST00000689464.1:c.1560G>A | ||
| ENST00000691014.1:c.8486G>A | ENSP00000510595.1:p.Ser2829Asn | |
| ENST00000693617.1:c.3020G>A | ENSP00000510031.1:p.Ser1007Asn | |
| ENST00000358273.9:c.8456G>A MANE Select | ENSP00000351015.4:p.Ser2819Asn | |
| ENST00000356175.7:c.8393G>A | ENSP00000348498.3:p.Ser2798Asn | |
| ENST00000358273.8:c.8456G>A | ENSP00000351015.4:p.Ser2819Asn | |
| ENST00000456735.6:c.7445G>A | ENSP00000389907.2:p.Ser2482Asn | |
| ENST00000471572.6:c.1839G>A | ||
| ENST00000579081.5:c.8592G>A | ENSP00000462408.1:n.8592G>A | |
| NM_000267.3:c.8393G>A , LRG_214t1:c.8393G>A | NP_000258.1:p.Ser2798Asn | |
| NM_001042492.2:c.8456G>A , LRG_214t2:c.8456G>A | NP_001035957.1:p.Ser2819Asn | |
| XM_005257983.1:c.8510G>A | XP_005258040.1:p.Ser2837Asn | |
| XM_005257984.1:c.8447G>A | XP_005258041.1:p.Ser2816Asn | |
| XM_006721922.1:c.8540G>A | XP_006721985.1:p.Ser2847Asn | |
| XM_006721923.2:c.8501G>A | XP_006721986.1:p.Ser2834Asn | |
| XM_006721924.1:c.8486G>A | XP_006721987.1:p.Ser2829Asn | |
| XM_006721925.1:c.8477G>A | XP_006721988.1:p.Ser2826Asn | |
| XM_006721926.2:c.*91G>A | XP_006721989.1:n.*91G>A | |
| XM_011524852.1:c.8537G>A | XP_011523154.1:p.Ser2846Asn | |
| XM_011524853.1:c.8501G>A | XP_011523155.1:p.Ser2834Asn | |
| XM_011524854.1:c.8501G>A | XP_011523156.1:p.Ser2834Asn | |
| XM_011524855.1:c.8501G>A | XP_011523157.1:p.Ser2834Asn | |
| XM_011524856.1:c.8501G>A | XP_011523158.1:p.Ser2834Asn | |
| XM_011524857.1:c.8417G>A | XP_011523159.1:p.Ser2806Asn | |
| NM_001042492.3:c.8456G>A MANE Select | NP_001035957.1:p.Ser2819Asn |