Linked Data
dbSNP Id:
rs768997888
ExAC:
1:94508448 A / C
gnomAD v2:
1-94508448-A-C
gnomAD v4:
1-94042892-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042892A>C , CM000663.2:g.94042892A>C | GRCh38 |
| NC_000001.10:g.94508448A>C , CM000663.1:g.94508448A>C | GRCh37 |
| NC_000001.9:g.94281036A>C | NCBI36 |
| NG_009073.1:g.83258T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3197T>G MANE Select | ENSP00000359245.3:p.Met1066Arg | |
| ENST00000370225.3:c.3197T>G | ENSP00000359245.3:p.Met1066Arg | |
| ENST00000536513.5:c.-64-2803T>G | ENSP00000439707.2:n.-64-2803T>G | |
| NM_000350.2:c.3197T>G | NP_000341.2:p.Met1066Arg | |
| NM_000350.3:c.3197T>G MANE Select | NP_000341.2:p.Met1066Arg |