gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.78970876G>A , CM000668.2:g.78970876G>A | GRCh38 |
| NC_000006.11:g.79680593G>A , CM000668.1:g.79680593G>A | GRCh37 |
| NC_000006.10:g.79737312G>A | NCBI36 |
| NG_051932.1:g.112423C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700013.1:c.2920C>T (PHIP) | ENSP00000514754.1:p.Arg974Ter | |
| ENST00000700114.1:c.2842C>T (PHIP) | ENSP00000514808.1:p.Arg948Ter | |
| ENST00000700115.1:c.2899C>T (PHIP) | ENSP00000514809.1:p.Arg967Ter | |
| ENST00000700118.1:c.2941C>T (PHIP) | ENSP00000514810.1:p.Arg981Ter | |
| ENST00000700172.1:n.332C>T (PHIP) | ||
| ENST00000275034.5:c.2902C>T (PHIP) MANE Select | ENSP00000275034.3:p.Arg968Ter | |
| ENST00000275034.4:c.2902C>T (PHIP) | ENSP00000275034.3:p.Arg968Ter | |
| ENST00000479165.1:n.191C>T (PHIP) | ||
| NM_017934.5:c.2902C>T (PHIP) | NP_060404.3:p.Arg968Ter | |
| XM_005248729.3:c.2899C>T (PHIP) | XP_005248786.1:p.Arg967Ter | |
| XM_011535917.1:c.2902C>T (PHIP) | XP_011534219.1:p.Arg968Ter | |
| XM_011535918.1:c.2386C>T (PHIP) | XP_011534220.1:p.Arg796Ter | |
| XM_011535919.1:c.2902C>T (PHIP) | XP_011534221.1:p.Arg968Ter | |
| XR_942499.1:n.3128C>T (PHIP) | ||
| NM_017934.6:c.2902C>T (PHIP) | NP_060404.4:p.Arg968Ter | |
| XM_005248729.5:c.2899C>T (PHIP) | XP_005248786.1:p.Arg967Ter | |
| XM_011535918.3:c.2386C>T (PHIP) | XP_011534220.1:p.Arg796Ter | |
| XM_017010989.2:c.1237C>T (PHIP) | XP_016866478.1:p.Arg413Ter | |
| XM_017010990.2:c.1237C>T (PHIP) | XP_016866479.1:p.Arg413Ter | |
| XR_001743162.1:n.818-8257G>A (IRAK1BP1) | ||
| NM_017934.7:c.2902C>T (PHIP) MANE Select | NP_060404.4:p.Arg968Ter |