Linked Data
ClinVar Variation Id:
2873257
dbSNP Id:
rs751431176
ExAC:
6:79650968 C / T
gnomAD v2:
6-79650968-C-T
gnomAD v3:
6-78941251-C-T
gnomAD v4:
6-78941251-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.78941251C>T , CM000668.2:g.78941251C>T | GRCh38 |
| NC_000006.11:g.79650968C>T , CM000668.1:g.79650968C>T | GRCh37 |
| NC_000006.10:g.79707687C>T | NCBI36 |
| NG_051932.1:g.142048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700013.1:c.4926G>A (PHIP) | ENSP00000514754.1:p.Lys1642= | |
| ENST00000700114.1:c.4848G>A (PHIP) | ENSP00000514808.1:p.Lys1616= | |
| ENST00000700115.1:c.4905G>A (PHIP) | ENSP00000514809.1:p.Lys1635= | |
| ENST00000700116.1:n.3107G>A (PHIP) | ||
| ENST00000700118.1:c.4947G>A (PHIP) | ENSP00000514810.1:p.Lys1649= | |
| ENST00000700170.1:n.1507G>A (PHIP) | ||
| ENST00000700171.1:c.930G>A (PHIP) | ||
| ENST00000275034.5:c.4908G>A (PHIP) MANE Select | ENSP00000275034.3:p.Lys1636= | |
| ENST00000275034.4:c.4908G>A (PHIP) | ENSP00000275034.3:p.Lys1636= | |
| ENST00000479165.1:n.4989G>A (PHIP) | ||
| ENST00000606868.5:c.602-4157C>T (IRAK1BP1) | ENSP00000475570.1:n.602-4157C>T | |
| NM_017934.5:c.4908G>A (PHIP) | NP_060404.3:p.Lys1636= | |
| XM_005248729.3:c.4905G>A (PHIP) | XP_005248786.1:p.Lys1635= | |
| XM_011535917.1:c.4755G>A (PHIP) | XP_011534219.1:p.Lys1585= | |
| XM_011535918.1:c.4392G>A (PHIP) | XP_011534220.1:p.Lys1464= | |
| NM_017934.6:c.4908G>A (PHIP) | NP_060404.4:p.Lys1636= | |
| XM_005248729.5:c.4905G>A (PHIP) | XP_005248786.1:p.Lys1635= | |
| XM_011535918.3:c.4392G>A (PHIP) | XP_011534220.1:p.Lys1464= | |
| XM_017010989.2:c.3243G>A (PHIP) | XP_016866478.1:p.Lys1081= | |
| XM_017010990.2:c.3243G>A (PHIP) | XP_016866479.1:p.Lys1081= | |
| XR_001743162.1:n.817+5682C>T (IRAK1BP1) | ||
| NM_017934.7:c.4908G>A (PHIP) MANE Select | NP_060404.4:p.Lys1636= |