Linked Data
dbSNP Id:
rs749821094
ExAC:
1:229567827 C / T
gnomAD v2:
1-229567827-C-T
gnomAD v4:
1-229432080-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432080C>T , CM000663.2:g.229432080C>T | GRCh38 |
| NC_000001.10:g.229567827C>T , CM000663.1:g.229567827C>T | GRCh37 |
| NC_000001.9:g.227634450C>T | NCBI36 |
| NG_006672.1:g.7017G>A , LRG_429:g.7017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.722G>A | ENSP00000355644.4:p.Ser241Asn | |
| ENST00000684723.1:c.587G>A | ENSP00000508084.1:p.Ser196Asn | |
| ENST00000366683.3:c.480-218G>A | ENSP00000355644.3:n.480-218G>A | |
| ENST00000366684.7:c.722G>A MANE Select | ENSP00000355645.3:p.Ser241Asn | |
| NM_001100.3:c.722G>A , LRG_429t1:c.722G>A | NP_001091.1:p.Ser241Asn | |
| NM_001100.4:c.722G>A MANE Select | NP_001091.1:p.Ser241Asn |