Linked Data
dbSNP Id:
rs780433260
ExAC:
11:116661346 C / T
gnomAD v2:
11-116661346-C-T
gnomAD v3:
11-116790630-C-T
gnomAD v4:
11-116790630-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790630C>T , CM000673.2:g.116790630C>T | GRCh38 |
| NC_000011.9:g.116661346C>T , CM000673.1:g.116661346C>T | GRCh37 |
| NC_000011.8:g.116166556C>T | NCBI36 |
| NG_015894.1:g.6791G>A | |
| NG_015894.2:g.6791G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.599G>A MANE Select | ENSP00000227665.4:p.Ser200Asn | |
| ENST00000433069.2:c.599G>A | ENSP00000399701.2:p.Ser200Asn | |
| ENST00000673688.1:c.683G>A | ENSP00000501141.1:p.Ser228Asn | |
| ENST00000227665.8:c.599G>A | ENSP00000227665.4:p.Ser200Asn | |
| ENST00000542499.5:c.599G>A | ENSP00000445002.1:p.Ser200Asn | |
| NM_001166598.1:c.599G>A | NP_001160070.1:p.Ser200Asn | |
| NM_052968.4:c.599G>A | NP_443200.2:p.Ser200Asn | |
| NM_001166598.2:c.599G>A | NP_001160070.1:p.Ser200Asn | |
| NM_001371904.1:c.599G>A MANE Select | NP_001358833.1:p.Ser200Asn | |
| NM_052968.5:c.599G>A | NP_443200.2:p.Ser200Asn |