Linked Data
dbSNP Id:
rs138149594
ExAC:
21:45194118 T / G
gnomAD v2:
21-45194118-T-G
gnomAD v3:
21-43774237-T-G
gnomAD v4:
21-43774237-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774237T>G , CM000683.2:g.43774237T>G | GRCh38 |
| NC_000021.8:g.45194118T>G , CM000683.1:g.45194118T>G | GRCh37 |
| NC_000021.7:g.44018546T>G | NCBI36 |
| NG_011545.1:g.7142A>C , LRG_485:g.7142A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.262A>C MANE Select | ENSP00000291568.6:p.Asn88His | |
| ENST00000480147.3:n.2032A>C | ||
| ENST00000639959.1:c.129A>C | ||
| ENST00000640406.1:c.*337A>C | ENSP00000492672.1:n.*337A>C | |
| ENST00000675996.1:n.687A>C | ||
| ENST00000291568.5:c.262A>C | ENSP00000291568.5:p.Asn88His | |
| ENST00000480147.1:n.626A>C | ||
| NM_000100.3:c.262A>C , LRG_485t1:c.262A>C | NP_000091.1:p.Asn88His | |
| NM_000100.4:c.262A>C MANE Select | NP_000091.1:p.Asn88His |