Linked Data
dbSNP Id:
rs1375320216
gnomAD v2:
7-94953722-A-G
gnomAD v3:
7-95324410-A-G
gnomAD v4:
7-95324410-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324410A>G , CM000669.2:g.95324410A>G | GRCh38 |
| NC_000007.13:g.94953722A>G , CM000669.1:g.94953722A>G | GRCh37 |
| NC_000007.12:g.94791658A>G | NCBI36 |
| NG_008779.1:g.5163T>C | |
| NG_008779.2:g.5297T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.66T>C MANE Select | ENSP00000222381.3:p.Ser22= | |
| ENST00000222381.7:c.66T>C | ENSP00000222381.3:p.Ser22= | |
| ENST00000433729.1:c.66T>C | ENSP00000407359.1:p.Ser22= | |
| NM_000446.5:c.66T>C | NP_000437.3:p.Ser22= | |
| NM_000446.6:c.66T>C | NP_000437.3:p.Ser22= | |
| NM_000446.7:c.66T>C MANE Select | NP_000437.3:p.Ser22= |