Linked Data
ClinVar Variation Id:
1525388
ClinVar RCV Id:
RCV002036648
dbSNP Id:
rs1343203166
gnomAD v2:
16-67973904-A-G
gnomAD v4:
16-67940001-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940001A>G , CM000678.2:g.67940001A>G | GRCh38 |
| NC_000016.9:g.67973904A>G , CM000678.1:g.67973904A>G | GRCh37 |
| NC_000016.8:g.66531405A>G | NCBI36 |
| NG_009778.1:g.9112T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1226T>C MANE Select | ENSP00000264005.5:p.Leu409Pro | |
| ENST00000264005.9:c.1226T>C | ENSP00000264005.5:p.Leu409Pro | |
| ENST00000570369.5:c.229T>C | ||
| ENST00000573538.5:c.964T>C | ENSP00000463220.1:n.964T>C | |
| NM_000229.1:c.1226T>C | NP_000220.1:p.Leu409Pro | |
| NM_000229.2:c.1226T>C MANE Select | NP_000220.1:p.Leu409Pro |