Linked Data
ClinVar Variation Id:
196313
dbSNP Id:
rs794727489
gnomAD v2:
10-118893641-T-C
gnomAD v3:
10-117134130-T-C
gnomAD v4:
10-117134130-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117134130T>C , CM000672.2:g.117134130T>C | GRCh38 |
| NC_000010.10:g.118893641T>C , CM000672.1:g.118893641T>C | GRCh37 |
| NC_000010.9:g.118883631T>C | NCBI36 |
| NG_012317.1:g.9172A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369206.6:c.883A>G MANE Select | ENSP00000358207.4:p.Met295Val | |
| ENST00000277905.6:c.430-1653A>G | ENSP00000277905.2:n.430-1653A>G | |
| ENST00000369206.5:c.883A>G | ENSP00000358207.4:p.Met295Val | |
| NM_001112704.1:c.883A>G | NP_001106175.1:p.Met295Val | |
| NM_199131.2:c.430-1653A>G | NP_954582.1:n.430-1653A>G | |
| NM_001112704.2:c.883A>G MANE Select | NP_001106175.1:p.Met295Val | |
| NM_199131.3:c.430-1653A>G | NP_954582.1:n.430-1653A>G |