Linked Data
ClinVar Variation Id:
3874
dbSNP Id:
rs11556045
ExAC:
5:73985215 A / G
gnomAD v2:
5-73985215-A-G
gnomAD v3:
5-74689390-A-G
gnomAD v4:
5-74689390-A-G
PubMed:
PMID:1531140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74689390A>G , CM000667.2:g.74689390A>G | GRCh38 |
| NC_000005.9:g.73985215A>G , CM000667.1:g.73985215A>G | GRCh37 |
| NC_000005.8:g.74020971A>G | NCBI36 |
| NG_009770.1:g.9247A>G | |
| NG_009770.2:g.54368A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261416.12:c.362A>G MANE Select | ENSP00000261416.7:p.Lys121Arg | |
| ENST00000261416.11:c.362A>G | ENSP00000261416.7:p.Lys121Arg | |
| ENST00000511181.5:c.-314A>G | ENSP00000426285.1:n.-314A>G | |
| ENST00000513079.5:n.427A>G | ||
| ENST00000515528.1:n.417A>G | ||
| NM_000521.3:c.362A>G | NP_000512.1:p.Lys121Arg | |
| NM_001292004.1:c.-314A>G | NP_001278933.1:n.-314A>G | |
| NM_000521.4:c.362A>G MANE Select | NP_000512.2:p.Lys121Arg | |
| NM_001292004.2:c.-314A>G | NP_001278933.1:n.-314A>G |