Linked Data
dbSNP Id:
rs1673088042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005765T>C , CM000664.2:g.20005765T>C | GRCh38 |
| NC_000002.11:g.20205526T>C , CM000664.1:g.20205526T>C | GRCh37 |
| NC_000002.10:g.20069007T>C | NCBI36 |
| NG_008087.1:g.11930A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.769A>G MANE Select | ENSP00000383894.3:p.Arg257Gly | |
| ENST00000407540.7:c.769A>G | ENSP00000383894.3:p.Arg257Gly | |
| ENST00000421259.2:c.769A>G | ENSP00000398753.2:p.Arg257Gly | |
| NM_002381.4:c.769A>G | NP_002372.1:p.Arg257Gly | |
| NM_002381.5:c.769A>G MANE Select | NP_002372.1:p.Arg257Gly |