Linked Data
dbSNP Id:
rs189658580
ExAC:
3:81754712 T / C
gnomAD v2:
3-81754712-T-C
gnomAD v3:
3-81705561-T-C
gnomAD v4:
3-81705561-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705561T>C , CM000665.2:g.81705561T>C | GRCh38 |
| NC_000003.11:g.81754712T>C , CM000665.1:g.81754712T>C | GRCh37 |
| NC_000003.10:g.81837402T>C | NCBI36 |
| NG_011810.1:g.61240A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.196A>G MANE Select | ENSP00000410833.2:p.Ile66Val | |
| ENST00000429644.6:c.196A>G | ENSP00000410833.2:p.Ile66Val | |
| ENST00000489715.1:c.73A>G | ENSP00000419638.1:p.Ile25Val | |
| NM_000158.3:c.196A>G | NP_000149.3:p.Ile66Val | |
| NM_000158.4:c.196A>G MANE Select | NP_000149.4:p.Ile66Val |