Linked Data
ClinVar Variation Id:
1982278
ClinVar RCV Id:
RCV002766672
dbSNP Id:
rs1219672984
gnomAD v2:
6-79650937-C-T
gnomAD v3:
6-78941220-C-T
gnomAD v4:
6-78941220-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.78941220C>T , CM000668.2:g.78941220C>T | GRCh38 |
| NC_000006.11:g.79650937C>T , CM000668.1:g.79650937C>T | GRCh37 |
| NC_000006.10:g.79707656C>T | NCBI36 |
| NG_051932.1:g.142079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700013.1:c.4957G>A (PHIP) | ENSP00000514754.1:p.Val1653Ile | |
| ENST00000700114.1:c.4879G>A (PHIP) | ENSP00000514808.1:p.Val1627Ile | |
| ENST00000700115.1:c.4936G>A (PHIP) | ENSP00000514809.1:p.Val1646Ile | |
| ENST00000700116.1:n.3138G>A (PHIP) | ||
| ENST00000700118.1:c.4978G>A (PHIP) | ENSP00000514810.1:p.Val1660Ile | |
| ENST00000700170.1:n.1538G>A (PHIP) | ||
| ENST00000700171.1:c.961G>A (PHIP) | ||
| ENST00000275034.5:c.4939G>A (PHIP) MANE Select | ENSP00000275034.3:p.Val1647Ile | |
| ENST00000275034.4:c.4939G>A (PHIP) | ENSP00000275034.3:p.Val1647Ile | |
| ENST00000479165.1:n.5020G>A (PHIP) | ||
| ENST00000606868.5:c.602-4188C>T (IRAK1BP1) | ENSP00000475570.1:n.602-4188C>T | |
| NM_017934.5:c.4939G>A (PHIP) | NP_060404.3:p.Val1647Ile | |
| XM_005248729.3:c.4936G>A (PHIP) | XP_005248786.1:p.Val1646Ile | |
| XM_011535917.1:c.4786G>A (PHIP) | XP_011534219.1:p.Val1596Ile | |
| XM_011535918.1:c.4423G>A (PHIP) | XP_011534220.1:p.Val1475Ile | |
| NM_017934.6:c.4939G>A (PHIP) | NP_060404.4:p.Val1647Ile | |
| XM_005248729.5:c.4936G>A (PHIP) | XP_005248786.1:p.Val1646Ile | |
| XM_011535918.3:c.4423G>A (PHIP) | XP_011534220.1:p.Val1475Ile | |
| XM_017010989.2:c.3274G>A (PHIP) | XP_016866478.1:p.Val1092Ile | |
| XM_017010990.2:c.3274G>A (PHIP) | XP_016866479.1:p.Val1092Ile | |
| XR_001743162.1:n.817+5651C>T (IRAK1BP1) | ||
| NM_017934.7:c.4939G>A (PHIP) MANE Select | NP_060404.4:p.Val1647Ile |