Linked Data
dbSNP Id:
rs1421502841
gnomAD v2:
2-131350524-G-C
gnomAD v3:
2-130592951-G-C
gnomAD v4:
2-130592951-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130592951G>C , CM000664.2:g.130592951G>C | GRCh38 |
| NC_000002.11:g.131350524G>C , CM000664.1:g.131350524G>C | GRCh37 |
| NC_000002.10:g.131066994G>C | NCBI36 |
| NG_008148.1:g.11559C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259216.6:c.598C>G MANE Select | ENSP00000259216.5:p.Arg200Gly | |
| ENST00000259216.4:c.598C>G | ENSP00000259216.4:p.Arg200Gly | |
| ENST00000615342.4:c.483C>G | ENSP00000480526.1:p.Leu161= | |
| ENST00000621673.4:c.373C>G | ENSP00000480843.1:p.Arg125Gly | |
| NM_001270420.1:c.483C>G | NP_001257349.1:p.Leu161= | |
| NM_001270421.1:c.373C>G | NP_001257350.1:p.Arg125Gly | |
| NM_032545.3:c.598C>G | NP_115934.1:p.Arg200Gly | |
| NM_032545.4:c.598C>G MANE Select | NP_115934.1:p.Arg200Gly | |
| NM_001270420.2:c.483C>G | NP_001257349.1:p.Leu161= | |
| NM_001270421.2:c.373C>G | NP_001257350.1:p.Arg125Gly |