Linked Data
ClinVar Variation Id:
635548
ClinVar RCV Id:
RCV000787021
dbSNP Id:
rs1596860697
gnomAD v4:
16-56836655-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56836655G>C , CM000678.2:g.56836655G>C | GRCh38 |
| NC_000016.9:g.56870567G>C , CM000678.1:g.56870567G>C | GRCh37 |
| NC_000016.8:g.55428068G>C | NCBI36 |
| NG_052904.1:g.111551G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308159.10:c.1837G>C MANE Select | ENSP00000310668.5:p.Ala613Pro | |
| ENST00000308159.9:c.1837G>C | ENSP00000310668.5:p.Ala613Pro | |
| ENST00000542526.5:c.1468G>C | ENSP00000440235.1:p.Ala490Pro | |
| ENST00000563405.1:c.31G>C | ENSP00000458078.1:p.Ala11Pro | |
| ENST00000564887.5:c.1468G>C | ENSP00000458039.1:p.Ala490Pro | |
| ENST00000569842.5:c.1837G>C | ENSP00000458101.1:p.Ala613Pro | |
| NM_001242795.1:c.1468G>C | NP_001229724.1:p.Ala490Pro | |
| NM_001242796.1:c.1468G>C | NP_001229725.1:p.Ala490Pro | |
| NM_014669.4:c.1837G>C | NP_055484.3:p.Ala613Pro | |
| XM_005256263.2:c.1837G>C | XP_005256320.1:p.Ala613Pro | |
| NM_001242796.2:c.1468G>C | NP_001229725.1:p.Ala490Pro | |
| XM_005256263.3:c.1837G>C | XP_005256320.1:p.Ala613Pro | |
| NM_014669.5:c.1837G>C MANE Select | NP_055484.3:p.Ala613Pro | |
| NM_001242795.2:c.1468G>C | NP_001229724.1:p.Ala490Pro |