Linked Data
dbSNP Id:
rs745692402
ExAC:
2:73717176 A / C
gnomAD v2:
2-73717176-A-C
gnomAD v4:
2-73490049-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490049A>C , CM000664.2:g.73490049A>C | GRCh38 |
| NC_000002.11:g.73717176A>C , CM000664.1:g.73717176A>C | GRCh37 |
| NC_000002.10:g.73570684A>C | NCBI36 |
| NG_011690.1:g.109297A>C , LRG_741:g.109297A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7709A>C | ENSP00000507671.1:p.His2570Pro | |
| ENST00000682801.1:c.7709A>C | ENSP00000507862.1:p.His2570Pro | |
| ENST00000682859.1:c.7709A>C | ENSP00000508222.1:p.His2570Pro | |
| ENST00000683791.1:c.1101A>C | ||
| ENST00000684460.1:c.5161A>C | ||
| ENST00000684548.1:c.7709A>C | ENSP00000507421.1:p.His2570Pro | |
| ENST00000684590.1:c.2156A>C | ENSP00000507376.1:p.His719Pro | |
| ENST00000684656.1:c.5161A>C | ||
| ENST00000613296.6:c.8090A>C MANE Select | ENSP00000482968.1:p.His2697Pro | |
| ENST00000651434.1:c.896-29726A>C | ||
| ENST00000423048.5:c.2921A>C | ENSP00000399833.1:p.His974Pro | |
| ENST00000484298.5:c.7964A>C | ENSP00000478155.1:p.His2655Pro | |
| ENST00000613296.4:c.8090A>C | ENSP00000482968.1:p.His2697Pro | |
| ENST00000614410.4:c.8090A>C | ENSP00000479094.1:p.His2697Pro | |
| ENST00000620466.4:n.1893A>C | ||
| NM_015120.4:c.8093A>C , LRG_741t1:c.8093A>C | NP_055935.4:p.His2698Pro | |
| NM_001378454.1:c.8090A>C MANE Select | NP_001365383.1:p.His2697Pro |