Linked Data
dbSNP Id:
rs763855506
ExAC:
7:94953774 A / G
gnomAD v2:
7-94953774-A-G
gnomAD v4:
7-95324462-A-G
COSMIC:
COSM3642570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324462A>G , CM000669.2:g.95324462A>G | GRCh38 |
| NC_000007.13:g.94953774A>G , CM000669.1:g.94953774A>G | GRCh37 |
| NC_000007.12:g.94791710A>G | NCBI36 |
| NG_008779.1:g.5111T>C | |
| NG_008779.2:g.5245T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.14T>C MANE Select | ENSP00000222381.3:p.Ile5Thr | |
| ENST00000222381.7:c.14T>C | ENSP00000222381.3:p.Ile5Thr | |
| ENST00000433729.1:c.14T>C | ENSP00000407359.1:p.Ile5Thr | |
| NM_000446.5:c.14T>C | NP_000437.3:p.Ile5Thr | |
| NM_000446.6:c.14T>C | NP_000437.3:p.Ile5Thr | |
| NM_000446.7:c.14T>C MANE Select | NP_000437.3:p.Ile5Thr |