Linked Data
ClinVar Variation Id:
497482
dbSNP Id:
rs569519789
ExAC:
17:40695511 T / C
gnomAD v2:
17-40695511-T-C
gnomAD v3:
17-42543493-T-C
gnomAD v4:
17-42543493-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543493T>C , CM000679.2:g.42543493T>C | GRCh38 |
| NC_000017.10:g.40695511T>C , CM000679.1:g.40695511T>C | GRCh37 |
| NC_000017.9:g.37949037T>C | NCBI36 |
| NG_011552.1:g.12561T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1487T>C MANE Select | ENSP00000225927.1:p.Leu496Pro | |
| ENST00000225927.6:c.1487T>C | ENSP00000225927.1:p.Leu496Pro | |
| ENST00000591587.1:c.825T>C | ENSP00000467836.1:n.825T>C | |
| ENST00000592454.1:c.526T>C | ||
| NM_000263.3:c.1487T>C | NP_000254.2:p.Leu496Pro | |
| XM_006721920.2:c.656T>C | XP_006721983.1:p.Leu219Pro | |
| XM_011524840.1:c.488T>C | XP_011523142.1:p.Leu163Pro | |
| XM_017024687.1:c.656T>C | XP_016880176.1:p.Leu219Pro | |
| XM_024450771.1:c.1544T>C | XP_024306539.1:p.Leu515Pro | |
| XM_024450772.1:c.488T>C | XP_024306540.1:p.Leu163Pro | |
| NM_000263.4:c.1487T>C MANE Select | NP_000254.2:p.Leu496Pro |