Linked Data
ClinVar Variation Id:
462860
ClinVar RCV Id:
RCV000550531
dbSNP Id:
rs763517274
gnomAD v4:
9-6565391-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6565391C>G , CM000671.2:g.6565391C>G | GRCh38 |
| NC_000009.11:g.6565391C>G , CM000671.1:g.6565391C>G | GRCh37 |
| NC_000009.10:g.6555391C>G | NCBI36 |
| NG_016397.1:g.85302G>C , LRG_643:g.85302G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1889G>C MANE Select | ENSP00000370737.4:p.Arg630Pro | |
| ENST00000460457.2:n.49G>C | ||
| ENST00000638233.1:n.324G>C | ||
| ENST00000638661.1:c.89G>C | ENSP00000491369.1:p.Arg30Pro | |
| ENST00000638694.1:n.76G>C | ||
| ENST00000639318.1:c.89G>C | ENSP00000491932.1:p.Arg30Pro | |
| ENST00000639364.1:n.1589G>C | ||
| ENST00000639443.1:n.1457G>C | ||
| ENST00000639954.1:n.1597G>C | ||
| ENST00000640208.1:c.89G>C | ENSP00000491895.1:p.Arg30Pro | |
| ENST00000640505.1:n.128G>C | ||
| ENST00000640592.1:n.1772G>C | ||
| ENST00000321612.6:c.1889G>C | ENSP00000370737.3:p.Arg630Pro | |
| ENST00000460457.1:n.28G>C | ||
| NM_000170.2:c.1889G>C , LRG_643t1:c.1889G>C | NP_000161.2:p.Arg630Pro | |
| NM_000170.3:c.1889G>C MANE Select | NP_000161.2:p.Arg630Pro |