Linked Data
dbSNP Id:
rs866133447
gnomAD v2:
22-20230120-T-C
gnomAD v3:
22-20242597-T-C
gnomAD v4:
22-20242597-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242597T>C , CM000684.2:g.20242597T>C | GRCh38 |
| NC_000022.10:g.20230120T>C , CM000684.1:g.20230120T>C | GRCh37 |
| NC_000022.9:g.18610120T>C | NCBI36 |
| NG_012176.1:g.30697A>G | |
| NG_012176.2:g.30697A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.536A>G MANE Select | ENSP00000043402.7:p.Asn179Ser | |
| ENST00000043402.7:c.536A>G | ENSP00000043402.7:p.Asn179Ser | |
| ENST00000416372.5:c.595A>G | ||
| ENST00000425986.1:c.793A>G | ||
| ENST00000469601.1:n.672A>G | ||
| NM_023004.5:c.536A>G | NP_075380.1:p.Asn179Ser | |
| NM_023004.6:c.536A>G MANE Select | NP_075380.1:p.Asn179Ser |