Linked Data
ClinVar Variation Id:
2776234
ClinVar RCV Id:
RCV003663063
dbSNP Id:
rs1367276733
gnomAD v4:
6-78940891-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.78940891A>C , CM000668.2:g.78940891A>C | GRCh38 |
| NC_000006.11:g.79650608A>C , CM000668.1:g.79650608A>C | GRCh37 |
| NC_000006.10:g.79707327A>C | NCBI36 |
| NG_051932.1:g.142408T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700013.1:c.5286T>G (PHIP) | ENSP00000514754.1:p.Phe1762Leu | |
| ENST00000700114.1:c.5208T>G (PHIP) | ENSP00000514808.1:p.Phe1736Leu | |
| ENST00000700115.1:c.5265T>G (PHIP) | ENSP00000514809.1:p.Phe1755Leu | |
| ENST00000700116.1:n.3467T>G (PHIP) | ||
| ENST00000700118.1:c.5307T>G (PHIP) | ENSP00000514810.1:p.Phe1769Leu | |
| ENST00000700170.1:n.1867T>G (PHIP) | ||
| ENST00000700171.1:c.1290T>G (PHIP) | ||
| ENST00000275034.5:c.5268T>G (PHIP) MANE Select | ENSP00000275034.3:p.Phe1756Leu | |
| ENST00000275034.4:c.5268T>G (PHIP) | ENSP00000275034.3:p.Phe1756Leu | |
| ENST00000479165.1:n.5349T>G (PHIP) | ||
| ENST00000606868.5:c.602-4517A>C (IRAK1BP1) | ENSP00000475570.1:n.602-4517A>C | |
| NM_017934.5:c.5268T>G (PHIP) | NP_060404.3:p.Phe1756Leu | |
| XM_005248729.3:c.5265T>G (PHIP) | XP_005248786.1:p.Phe1755Leu | |
| XM_011535917.1:c.5115T>G (PHIP) | XP_011534219.1:p.Phe1705Leu | |
| XM_011535918.1:c.4752T>G (PHIP) | XP_011534220.1:p.Phe1584Leu | |
| NM_017934.6:c.5268T>G (PHIP) | NP_060404.4:p.Phe1756Leu | |
| XM_005248729.5:c.5265T>G (PHIP) | XP_005248786.1:p.Phe1755Leu | |
| XM_011535918.3:c.4752T>G (PHIP) | XP_011534220.1:p.Phe1584Leu | |
| XM_017010989.2:c.3603T>G (PHIP) | XP_016866478.1:p.Phe1201Leu | |
| XM_017010990.2:c.3603T>G (PHIP) | XP_016866479.1:p.Phe1201Leu | |
| XR_001743162.1:n.817+5322A>C (IRAK1BP1) | ||
| NM_017934.7:c.5268T>G (PHIP) MANE Select | NP_060404.4:p.Phe1756Leu |