Linked Data
dbSNP Id:
rs768327092
ExAC:
21:45194083 T / C
gnomAD v2:
21-45194083-T-C
gnomAD v4:
21-43774202-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774202T>C , CM000683.2:g.43774202T>C | GRCh38 |
| NC_000021.8:g.45194083T>C , CM000683.1:g.45194083T>C | GRCh37 |
| NC_000021.7:g.44018511T>C | NCBI36 |
| NG_011545.1:g.7177A>G , LRG_485:g.7177A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.297A>G MANE Select | ENSP00000291568.6:p.Ter99Trp | |
| ENST00000480147.3:n.2067A>G | ||
| ENST00000639959.1:c.164A>G | ||
| ENST00000640406.1:c.*372A>G | ENSP00000492672.1:n.*372A>G | |
| ENST00000675996.1:n.722A>G | ||
| ENST00000291568.5:c.297A>G | ENSP00000291568.5:p.Ter99Trp | |
| ENST00000480147.1:n.661A>G | ||
| NM_000100.3:c.297A>G , LRG_485t1:c.297A>G | NP_000091.1:p.Ter99Trp | |
| NM_000100.4:c.297A>G MANE Select | NP_000091.1:p.Ter99Trp |