Linked Data
dbSNP Id:
rs770126483
ExAC:
10:96541628 C / G
gnomAD v2:
10-96541628-C-G
gnomAD v3:
10-94781871-C-G
gnomAD v4:
10-94781871-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781871C>G , CM000672.2:g.94781871C>G | GRCh38 |
| NC_000010.10:g.96541628C>G , CM000672.1:g.96541628C>G | GRCh37 |
| NC_000010.9:g.96531618C>G | NCBI36 |
| NG_008384.2:g.24166C>G | |
| NG_008384.3:g.24191C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.693C>G MANE Select | ENSP00000360372.3:p.Asn231Lys | |
| ENST00000645461.1:n.1746C>G | ||
| ENST00000371321.7:c.693C>G | ENSP00000360372.3:p.Asn231Lys | |
| ENST00000464755.1:c.1456C>G | ENSP00000483243.1:n.1456C>G | |
| NM_000769.2:c.693C>G | NP_000760.1:p.Asn231Lys | |
| NM_000769.4:c.693C>G MANE Select | NP_000760.1:p.Asn231Lys |