Linked Data
dbSNP Id:
rs758353589
ExAC:
1:160851937 A / C
gnomAD v2:
1-160851937-A-C
gnomAD v4:
1-160882147-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882147A>C , CM000663.2:g.160882147A>C | GRCh38 |
| NC_000001.10:g.160851937A>C , CM000663.1:g.160851937A>C | GRCh37 |
| NC_000001.9:g.159118561A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.215T>G MANE Select | ENSP00000323587.3:p.Met72Arg | |
| ENST00000326245.3:c.215T>G | ENSP00000323587.3:p.Met72Arg | |
| ENST00000464077.1:n.149T>G | ||
| NM_017625.2:c.215T>G | NP_060095.2:p.Met72Arg | |
| NM_017625.3:c.215T>G MANE Select | NP_060095.2:p.Met72Arg |