Linked Data
dbSNP Id:
rs1002762120
gnomAD v2:
2-241816982-G-A
gnomAD v3:
2-240877565-G-A
gnomAD v4:
2-240877565-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877565G>A , CM000664.2:g.240877565G>A | GRCh38 |
| NC_000002.11:g.241816982G>A , CM000664.1:g.241816982G>A | GRCh37 |
| NC_000002.10:g.241465655G>A | NCBI36 |
| NG_008005.1:g.13821G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.875G>A MANE Select | ENSP00000302620.3:p.Arg292His | |
| ENST00000307503.3:c.875G>A | ENSP00000302620.3:p.Arg292His | |
| ENST00000470255.1:n.653G>A | ||
| NM_000030.2:c.875G>A | NP_000021.1:p.Arg292His | |
| NM_000030.3:c.875G>A MANE Select | NP_000021.1:p.Arg292His |