Linked Data
ClinVar Variation Id:
3121591
ClinVar RCV Id:
RCV004410926
dbSNP Id:
rs140789355
ExAC:
11:25004836 C / G
gnomAD v2:
11-25004836-C-G
gnomAD v3:
11-24983290-C-G
gnomAD v4:
11-24983290-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.24983290C>G , CM000673.2:g.24983290C>G | GRCh38 |
| NC_000011.9:g.25004836C>G , CM000673.1:g.25004836C>G | GRCh37 |
| NC_000011.8:g.24961412C>G | NCBI36 |
| NG_030588.1:g.491321C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336930.11:c.762C>G MANE Select | ENSP00000336817.6:p.Ser254Arg | |
| ENST00000336930.10:c.762C>G | ENSP00000336817.6:p.Ser254Arg | |
| ENST00000533227.5:c.504C>G | ENSP00000432952.1:p.Ser168Arg | |
| ENST00000620308.1:c.504C>G | ENSP00000480441.1:p.Ser168Arg | |
| NM_001009909.3:c.762C>G | NP_001009909.2:p.Ser254Arg | |
| NM_001252008.1:c.504C>G | NP_001238937.1:p.Ser168Arg | |
| NM_001252010.1:c.636C>G | NP_001238939.1:p.Ser212Arg | |
| XM_011520054.1:c.1140C>G | XP_011518356.1:p.Ser380Arg | |
| XM_017017648.2:c.1140C>G | XP_016873137.2:p.Ser380Arg | |
| XM_024448468.1:c.1140C>G | XP_024304236.1:p.Ser380Arg | |
| NM_001009909.4:c.762C>G MANE Select | NP_001009909.2:p.Ser254Arg | |
| NM_001252008.2:c.504C>G | NP_001238937.1:p.Ser168Arg | |
| NM_001252010.2:c.636C>G | NP_001238939.1:p.Ser212Arg |