Linked Data
dbSNP Id:
rs1692522131
gnomAD v4:
2-74145220-T-C
MyVariant Identifiers:
chr2:g.74372347T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145220T>C , CM000664.2:g.74145220T>C | GRCh38 |
| NC_000002.11:g.74372347T>C , CM000664.1:g.74372347T>C | GRCh37 |
| NC_000002.10:g.74225855T>C | NCBI36 |
| NG_031910.1:g.7693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.138A>G MANE Select | ENSP00000331369.5:p.Arg46= | |
| ENST00000295326.4:c.138A>G | ENSP00000295326.4:p.Arg46= | |
| ENST00000327428.9:c.138A>G | ENSP00000331369.5:p.Arg46= | |
| ENST00000469676.1:n.1161A>G | ||
| ENST00000477685.5:n.289A>G | ||
| ENST00000484655.1:n.2693A>G | ||
| NM_001035505.1:c.138A>G | NP_001030582.1:p.Arg46= | |
| NM_212552.2:c.138A>G | NP_997717.2:p.Arg46= | |
| NM_212552.3:c.138A>G MANE Select | NP_997717.2:p.Arg46= | |
| NM_001035505.2:c.138A>G | NP_001030582.1:p.Arg46= |