Linked Data
ClinVar Variation Id:
2114959
ClinVar RCV Id:
RCV003032423
dbSNP Id:
rs1308755079
gnomAD v2:
6-79650920-A-T
gnomAD v4:
6-78941203-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.78941203A>T , CM000668.2:g.78941203A>T | GRCh38 |
| NC_000006.11:g.79650920A>T , CM000668.1:g.79650920A>T | GRCh37 |
| NC_000006.10:g.79707639A>T | NCBI36 |
| NG_051932.1:g.142096T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700013.1:c.4974T>A (PHIP) | ENSP00000514754.1:p.Gly1658= | |
| ENST00000700114.1:c.4896T>A (PHIP) | ENSP00000514808.1:p.Gly1632= | |
| ENST00000700115.1:c.4953T>A (PHIP) | ENSP00000514809.1:p.Gly1651= | |
| ENST00000700116.1:n.3155T>A (PHIP) | ||
| ENST00000700118.1:c.4995T>A (PHIP) | ENSP00000514810.1:p.Gly1665= | |
| ENST00000700170.1:n.1555T>A (PHIP) | ||
| ENST00000700171.1:c.978T>A (PHIP) | ||
| ENST00000275034.5:c.4956T>A (PHIP) MANE Select | ENSP00000275034.3:p.Gly1652= | |
| ENST00000275034.4:c.4956T>A (PHIP) | ENSP00000275034.3:p.Gly1652= | |
| ENST00000479165.1:n.5037T>A (PHIP) | ||
| ENST00000606868.5:c.602-4205A>T (IRAK1BP1) | ENSP00000475570.1:n.602-4205A>T | |
| NM_017934.5:c.4956T>A (PHIP) | NP_060404.3:p.Gly1652= | |
| XM_005248729.3:c.4953T>A (PHIP) | XP_005248786.1:p.Gly1651= | |
| XM_011535917.1:c.4803T>A (PHIP) | XP_011534219.1:p.Gly1601= | |
| XM_011535918.1:c.4440T>A (PHIP) | XP_011534220.1:p.Gly1480= | |
| NM_017934.6:c.4956T>A (PHIP) | NP_060404.4:p.Gly1652= | |
| XM_005248729.5:c.4953T>A (PHIP) | XP_005248786.1:p.Gly1651= | |
| XM_011535918.3:c.4440T>A (PHIP) | XP_011534220.1:p.Gly1480= | |
| XM_017010989.2:c.3291T>A (PHIP) | XP_016866478.1:p.Gly1097= | |
| XM_017010990.2:c.3291T>A (PHIP) | XP_016866479.1:p.Gly1097= | |
| XR_001743162.1:n.817+5634A>T (IRAK1BP1) | ||
| NM_017934.7:c.4956T>A (PHIP) MANE Select | NP_060404.4:p.Gly1652= |