Linked Data
ClinVar Variation Id:
1168500
ClinVar RCV Id:
RCV001518806
dbSNP Id:
rs12282107
ExAC:
11:124539273 T / C
gnomAD v2:
11-124539273-T-C
gnomAD v3:
11-124669377-T-C
gnomAD v4:
11-124669377-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124669377T>C , CM000673.2:g.124669377T>C | GRCh38 |
| NC_000011.9:g.124539273T>C , CM000673.1:g.124539273T>C | GRCh37 |
| NC_000011.8:g.124044483T>C | NCBI36 |
| NG_028132.1:g.11927A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263593.8:c.212A>G MANE Select | ENSP00000263593.3:p.Lys71Arg | |
| ENST00000263593.7:c.212A>G | ENSP00000263593.3:p.Lys71Arg | |
| ENST00000436137.2:n.325A>G | ||
| ENST00000533613.1:n.236A>G | ||
| ENST00000545756.5:c.107A>G | ENSP00000437877.1:p.Lys36Arg | |
| ENST00000618733.4:c.107A>G | ENSP00000478211.1:p.Lys36Arg | |
| NM_001199922.1:c.107A>G | NP_001186851.1:p.Lys36Arg | |
| NM_170601.4:c.212A>G | NP_733746.1:p.Lys71Arg | |
| XM_005271592.3:c.212A>G | XP_005271649.1:p.Lys71Arg | |
| XM_017017930.1:c.-3041A>G | XP_016873419.1:n.-3041A>G | |
| NM_170601.5:c.212A>G MANE Select | NP_733746.1:p.Lys71Arg | |
| NM_001199922.2:c.107A>G | NP_001186851.1:p.Lys36Arg |