Linked Data
dbSNP Id:
rs16858811
ExAC:
2:219029843 A / C
gnomAD v2:
2-219029843-A-C
gnomAD v3:
2-218165120-A-C
gnomAD v4:
2-218165120-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218165120A>C , CM000664.2:g.218165120A>C | GRCh38 |
| NC_000002.11:g.219029843A>C , CM000664.1:g.219029843A>C | GRCh37 |
| NC_000002.10:g.218738088A>C | NCBI36 |
| NG_011814.1:g.6874T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295683.3:c.92T>G MANE Select | ENSP00000295683.2:p.Met31Arg | |
| ENST00000295683.2:c.92T>G | ENSP00000295683.2:p.Met31Arg | |
| NM_000634.2:c.92T>G | NP_000625.1:p.Met31Arg | |
| NM_000634.3:c.92T>G MANE Select | NP_000625.1:p.Met31Arg |