Linked Data
ClinVar Variation Id:
709520
ClinVar RCV Id:
RCV000880941
dbSNP Id:
rs73901831
ExAC:
21:38437960 T / G
gnomAD v2:
21-38437960-T-G
gnomAD v3:
21-37065660-T-G
gnomAD v4:
21-37065660-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37065660T>G , CM000683.2:g.37065660T>G | GRCh38 |
| NC_000021.8:g.38437960T>G , CM000683.1:g.38437960T>G | GRCh37 |
| NC_000021.7:g.37359830T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360525.9:c.327A>C MANE Select | ENSP00000353719.3:p.Pro109= | |
| ENST00000329667.7:n.276A>C | ||
| ENST00000360525.8:c.327A>C | ENSP00000353719.3:p.Pro109= | |
| ENST00000399098.5:c.249A>C | ENSP00000382049.1:p.Pro83= | |
| ENST00000399102.5:c.327A>C | ENSP00000382053.1:p.Pro109= | |
| ENST00000399103.5:c.327A>C | ENSP00000382054.1:p.Pro109= | |
| ENST00000464265.5:c.399A>C | ENSP00000420037.1:p.Pro133= | |
| NM_153681.2:c.399A>C | NP_710148.1:p.Pro133= | |
| NM_153682.2:c.327A>C | NP_710149.1:p.Pro109= | |
| NR_028352.1:n.674A>C | ||
| XM_005260990.3:c.327A>C | XP_005261047.1:p.Pro109= | |
| XM_011529595.1:c.327A>C | XP_011527897.1:p.Pro109= | |
| XM_011529596.1:c.327A>C | XP_011527898.1:p.Pro109= | |
| NM_001320480.1:c.327A>C | NP_001307409.1:p.Pro109= | |
| NM_016430.3:c.249A>C | NP_057514.2:p.Pro83= | |
| XM_017028365.1:c.249A>C | XP_016883854.1:p.Pro83= | |
| NM_001320480.2:c.327A>C | NP_001307409.1:p.Pro109= | |
| NM_016430.4:c.249A>C | NP_057514.2:p.Pro83= | |
| NM_153682.3:c.327A>C MANE Select | NP_710149.1:p.Pro109= |