Linked Data
ClinVar Variation Id:
2881269
ClinVar RCV Id:
RCV003715856
dbSNP Id:
rs1773757850
gnomAD v4:
6-78945475-A-G
MyVariant Identifiers:
chr6:g.79655192A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.78945475A>G , CM000668.2:g.78945475A>G | GRCh38 |
| NC_000006.11:g.79655192A>G , CM000668.1:g.79655192A>G | GRCh37 |
| NC_000006.10:g.79711911A>G | NCBI36 |
| NG_051932.1:g.137824T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700013.1:c.4671T>C (PHIP) | ENSP00000514754.1:p.His1557= | |
| ENST00000700114.1:c.4593T>C (PHIP) | ENSP00000514808.1:p.His1531= | |
| ENST00000700115.1:c.4650T>C (PHIP) | ENSP00000514809.1:p.His1550= | |
| ENST00000700116.1:n.2852T>C (PHIP) | ||
| ENST00000700118.1:c.4692T>C (PHIP) | ENSP00000514810.1:p.His1564= | |
| ENST00000700170.1:n.1279-27T>C (PHIP) | ||
| ENST00000700171.1:c.675T>C (PHIP) | ||
| ENST00000275034.5:c.4653T>C (PHIP) MANE Select | ENSP00000275034.3:p.His1551= | |
| ENST00000275034.4:c.4653T>C (PHIP) | ENSP00000275034.3:p.His1551= | |
| ENST00000479165.1:n.4734T>C (PHIP) | ||
| ENST00000606868.5:c.669A>G (IRAK1BP1) | ENSP00000475570.1:n.669A>G | |
| NM_017934.5:c.4653T>C (PHIP) | NP_060404.3:p.His1551= | |
| XM_005248729.3:c.4650T>C (PHIP) | XP_005248786.1:p.His1550= | |
| XM_011535917.1:c.4500T>C (PHIP) | XP_011534219.1:p.His1500= | |
| XM_011535918.1:c.4137T>C (PHIP) | XP_011534220.1:p.His1379= | |
| NM_017934.6:c.4653T>C (PHIP) | NP_060404.4:p.His1551= | |
| XM_005248729.5:c.4650T>C (PHIP) | XP_005248786.1:p.His1550= | |
| XM_011535918.3:c.4137T>C (PHIP) | XP_011534220.1:p.His1379= | |
| XM_017010989.2:c.2988T>C (PHIP) | XP_016866478.1:p.His996= | |
| XM_017010990.2:c.2988T>C (PHIP) | XP_016866479.1:p.His996= | |
| XR_001743162.1:n.817+9906A>G (IRAK1BP1) | ||
| NM_017934.7:c.4653T>C (PHIP) MANE Select | NP_060404.4:p.His1551= |