Linked Data
ClinVar Variation Id:
2065257
ClinVar RCV Id:
RCV002958336
dbSNP Id:
rs543814235
gnomAD v4:
6-78945295-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.78945295C>T , CM000668.2:g.78945295C>T | GRCh38 |
| NC_000006.11:g.79655012C>T , CM000668.1:g.79655012C>T | GRCh37 |
| NC_000006.10:g.79711731C>T | NCBI36 |
| NG_051932.1:g.138004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700013.1:c.4846+5G>A (PHIP) | ENSP00000514754.1:n.4846+5G>A | |
| ENST00000700114.1:c.4768+5G>A (PHIP) | ENSP00000514808.1:n.4768+5G>A | |
| ENST00000700115.1:c.4825+5G>A (PHIP) | ENSP00000514809.1:n.4825+5G>A | |
| ENST00000700116.1:n.3027+5G>A (PHIP) | ||
| ENST00000700118.1:c.4867+5G>A (PHIP) | ENSP00000514810.1:n.4867+5G>A | |
| ENST00000700170.1:n.1427+5G>A (PHIP) | ||
| ENST00000700171.1:c.850+5G>A (PHIP) | ||
| ENST00000275034.5:c.4828+5G>A (PHIP) MANE Select | ENSP00000275034.3:n.4828+5G>A | |
| ENST00000275034.4:c.4828+5G>A (PHIP) | ENSP00000275034.3:n.4828+5G>A | |
| ENST00000479165.1:n.4909+5G>A (PHIP) | ||
| ENST00000606868.5:c.602-113C>T (IRAK1BP1) | ENSP00000475570.1:n.602-113C>T | |
| NM_017934.5:c.4828+5G>A (PHIP) | NP_060404.3:n.4828+5G>A | |
| XM_005248729.3:c.4825+5G>A (PHIP) | XP_005248786.1:n.4825+5G>A | |
| XM_011535917.1:c.4675+5G>A (PHIP) | XP_011534219.1:n.4675+5G>A | |
| XM_011535918.1:c.4312+5G>A (PHIP) | XP_011534220.1:n.4312+5G>A | |
| NM_017934.6:c.4828+5G>A (PHIP) | NP_060404.4:n.4828+5G>A | |
| XM_005248729.5:c.4825+5G>A (PHIP) | XP_005248786.1:n.4825+5G>A | |
| XM_011535918.3:c.4312+5G>A (PHIP) | XP_011534220.1:n.4312+5G>A | |
| XM_017010989.2:c.3163+5G>A (PHIP) | XP_016866478.1:n.3163+5G>A | |
| XM_017010990.2:c.3163+5G>A (PHIP) | XP_016866479.1:n.3163+5G>A | |
| XR_001743162.1:n.817+9726C>T (IRAK1BP1) | ||
| NM_017934.7:c.4828+5G>A (PHIP) MANE Select | NP_060404.4:n.4828+5G>A |