Linked Data
ClinVar Variation Id:
120303
ClinVar RCV Id:
RCV000106384
RCV001027542
RCV001091904
RCV001536077
RCV001808328
RCV002262704
RCV003945041
dbSNP Id:
rs77563738
ExAC:
22:17687997 C / T
gnomAD v2:
22-17687997-C-T
gnomAD v3:
22-17207107-C-T
gnomAD v4:
22-17207107-C-T
COSMIC:
COSM4102397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17207107C>T , CM000684.2:g.17207107C>T | GRCh38 |
| NC_000022.10:g.17687997C>T , CM000684.1:g.17687997C>T | GRCh37 |
| NC_000022.9:g.16067997C>T | NCBI36 |
| NG_033943.1:g.19748G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449907.8:c.380G>A | ENSP00000406443.2:p.Arg127Gln | |
| ENST00000543038.2:c.506G>A | ENSP00000442482.2:p.Arg169Gln | |
| ENST00000610390.5:c.146G>A | ENSP00000483418.1:p.Arg49Gln | |
| ENST00000649310.2:c.506G>A | ENSP00000496839.2:p.Arg169Gln | |
| ENST00000649746.2:c.506G>A | ENSP00000497913.2:p.Arg169Gln | |
| ENST00000649915.2:c.506G>A | ENSP00000497681.2:p.Arg169Gln | |
| ENST00000696196.1:c.506G>A | ENSP00000512479.1:p.Arg169Gln | |
| ENST00000696197.1:c.506G>A | ENSP00000512480.1:p.Arg169Gln | |
| ENST00000696225.1:c.506G>A | ENSP00000512491.1:p.Arg169Gln | |
| ENST00000696226.1:c.506G>A | ENSP00000512492.1:p.Arg169Gln | |
| ENST00000696227.1:c.506G>A | ENSP00000512493.1:p.Arg169Gln | |
| ENST00000399837.8:c.506G>A MANE Select | ENSP00000382731.2:p.Arg169Gln | |
| ENST00000449907.7:c.380G>A | ENSP00000406443.2:p.Arg127Gln | |
| ENST00000649540.1:c.380G>A | ENSP00000497469.1:p.Arg127Gln | |
| ENST00000649915.1:c.333G>A | ||
| ENST00000650635.1:n.506G>A | ||
| ENST00000262607.3:c.506G>A | ENSP00000262607.2:p.Arg169Gln | |
| ENST00000399837.6:c.506G>A | ENSP00000382731.2:p.Arg169Gln | |
| ENST00000399839.5:c.506G>A | ENSP00000382733.1:p.Arg169Gln | |
| ENST00000449907.6:c.380G>A | ENSP00000406443.2:p.Arg127Gln | |
| ENST00000610390.4:c.146G>A | ENSP00000483418.1:p.Arg49Gln | |
| NM_001282225.1:c.506G>A | NP_001269154.1:p.Arg169Gln | |
| NM_001282226.1:c.506G>A | NP_001269155.1:p.Arg169Gln | |
| NM_001282227.1:c.380G>A | NP_001269156.1:p.Arg127Gln | |
| NM_001282228.1:c.380G>A | NP_001269157.1:p.Arg127Gln | |
| NM_001282229.1:c.146G>A | NP_001269158.1:p.Arg49Gln | |
| XM_006724080.2:c.-1865G>A | XP_006724143.1:n.-1865G>A | |
| XM_011546133.1:c.506G>A | XP_011544435.1:p.Arg169Gln | |
| NM_001282225.2:c.506G>A MANE Select | NP_001269154.1:p.Arg169Gln | |
| XM_006724080.3:c.-1865G>A | XP_006724143.1:n.-1865G>A | |
| XM_011546133.2:c.506G>A | XP_011544435.1:p.Arg169Gln | |
| NM_001282226.2:c.506G>A | NP_001269155.1:p.Arg169Gln | |
| NM_001282227.2:c.380G>A | NP_001269156.1:p.Arg127Gln | |
| NM_001282228.2:c.380G>A | NP_001269157.1:p.Arg127Gln | |
| NM_001282229.2:c.146G>A | NP_001269158.1:p.Arg49Gln |