Linked Data
ClinVar Variation Id:
377757
ClinVar RCV Id:
RCV000421663
dbSNP Id:
rs201576714
ExAC:
21:45194076 G / C
gnomAD v2:
21-45194076-G-C
gnomAD v3:
21-43774195-G-C
gnomAD v4:
21-43774195-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774195G>C , CM000683.2:g.43774195G>C | GRCh38 |
| NC_000021.8:g.45194076G>C , CM000683.1:g.45194076G>C | GRCh37 |
| NC_000021.7:g.44018504G>C | NCBI36 |
| NG_011545.1:g.7184C>G , LRG_485:g.7184C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.*7C>G MANE Select | ENSP00000291568.6:n.*7C>G | |
| ENST00000480147.3:n.2074C>G | ||
| ENST00000639959.1:c.171C>G | ||
| ENST00000640406.1:c.*379C>G | ENSP00000492672.1:n.*379C>G | |
| ENST00000675996.1:n.729C>G | ||
| ENST00000291568.5:c.*7C>G | ENSP00000291568.5:n.*7C>G | |
| ENST00000480147.1:n.668C>G | ||
| NM_000100.3:c.*7C>G , LRG_485t1:c.*7C>G | NP_000091.1:n.*7C>G | |
| NM_000100.4:c.*7C>G MANE Select | NP_000091.1:n.*7C>G |