Linked Data
ClinVar Variation Id:
2434692
dbSNP Id:
rs776162259
ExAC:
6:79651030 C / T
gnomAD v2:
6-79651030-C-T
gnomAD v3:
6-78941313-C-T
gnomAD v4:
6-78941313-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.78941313C>T , CM000668.2:g.78941313C>T | GRCh38 |
| NC_000006.11:g.79651030C>T , CM000668.1:g.79651030C>T | GRCh37 |
| NC_000006.10:g.79707749C>T | NCBI36 |
| NG_051932.1:g.141986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700013.1:c.4864G>A (PHIP) | ENSP00000514754.1:p.Ala1622Thr | |
| ENST00000700114.1:c.4786G>A (PHIP) | ENSP00000514808.1:p.Ala1596Thr | |
| ENST00000700115.1:c.4843G>A (PHIP) | ENSP00000514809.1:p.Ala1615Thr | |
| ENST00000700116.1:n.3045G>A (PHIP) | ||
| ENST00000700118.1:c.4885G>A (PHIP) | ENSP00000514810.1:p.Ala1629Thr | |
| ENST00000700170.1:n.1445G>A (PHIP) | ||
| ENST00000700171.1:c.868G>A (PHIP) | ||
| ENST00000275034.5:c.4846G>A (PHIP) MANE Select | ENSP00000275034.3:p.Ala1616Thr | |
| ENST00000275034.4:c.4846G>A (PHIP) | ENSP00000275034.3:p.Ala1616Thr | |
| ENST00000479165.1:n.4927G>A (PHIP) | ||
| ENST00000606868.5:c.602-4095C>T (IRAK1BP1) | ENSP00000475570.1:n.602-4095C>T | |
| NM_017934.5:c.4846G>A (PHIP) | NP_060404.3:p.Ala1616Thr | |
| XM_005248729.3:c.4843G>A (PHIP) | XP_005248786.1:p.Ala1615Thr | |
| XM_011535917.1:c.4693G>A (PHIP) | XP_011534219.1:p.Ala1565Thr | |
| XM_011535918.1:c.4330G>A (PHIP) | XP_011534220.1:p.Ala1444Thr | |
| NM_017934.6:c.4846G>A (PHIP) | NP_060404.4:p.Ala1616Thr | |
| XM_005248729.5:c.4843G>A (PHIP) | XP_005248786.1:p.Ala1615Thr | |
| XM_011535918.3:c.4330G>A (PHIP) | XP_011534220.1:p.Ala1444Thr | |
| XM_017010989.2:c.3181G>A (PHIP) | XP_016866478.1:p.Ala1061Thr | |
| XM_017010990.2:c.3181G>A (PHIP) | XP_016866479.1:p.Ala1061Thr | |
| XR_001743162.1:n.817+5744C>T (IRAK1BP1) | ||
| NM_017934.7:c.4846G>A (PHIP) MANE Select | NP_060404.4:p.Ala1616Thr |