Linked Data
dbSNP Id:
rs773646611
ExAC:
2:242741283 C / T
gnomAD v2:
2-242741283-C-T
gnomAD v4:
2-241801868-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241801868C>T , CM000664.2:g.241801868C>T | GRCh38 |
| NC_000002.11:g.242741283C>T , CM000664.1:g.242741283C>T | GRCh37 |
| NC_000002.10:g.242389956C>T | NCBI36 |
| NG_046977.1:g.30044C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192314.7:c.207C>T MANE Select | ENSP00000192314.6:p.Asn69= | |
| ENST00000192314.6:c.207C>T | ENSP00000192314.6:p.Asn69= | |
| NM_022134.2:c.207C>T | NP_071417.2:p.Asn69= | |
| NM_022134.3:c.207C>T MANE Select | NP_071417.2:p.Asn69= |