Linked Data
ClinVar Variation Id:
120305
dbSNP Id:
rs148936893
ExAC:
22:17684454 G / A
gnomAD v2:
22-17684454-G-A
gnomAD v3:
22-17203564-G-A
gnomAD v4:
22-17203564-G-A
PubMed:
PMID:24552285
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17203564G>A , CM000684.2:g.17203564G>A | GRCh38 |
| NC_000022.10:g.17684454G>A , CM000684.1:g.17684454G>A | GRCh37 |
| NC_000022.9:g.16064454G>A | NCBI36 |
| NG_033943.1:g.23291C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449907.8:c.626C>T | ENSP00000406443.2:p.Pro209Leu | |
| ENST00000543038.2:c.752C>T | ENSP00000442482.2:p.Pro251Leu | |
| ENST00000610390.5:c.392C>T | ENSP00000483418.1:p.Pro131Leu | |
| ENST00000649310.2:c.752C>T | ENSP00000496839.2:p.Pro251Leu | |
| ENST00000649746.2:c.752C>T | ENSP00000497913.2:p.Pro251Leu | |
| ENST00000649915.2:c.*224C>T | ENSP00000497681.2:n.*224C>T | |
| ENST00000696196.1:c.752C>T | ENSP00000512479.1:p.Pro251Leu | |
| ENST00000696197.1:c.752C>T | ENSP00000512480.1:p.Pro251Leu | |
| ENST00000696225.1:c.752C>T | ENSP00000512491.1:p.Pro251Leu | |
| ENST00000696226.1:c.752C>T | ENSP00000512492.1:p.Pro251Leu | |
| ENST00000696227.1:c.*304C>T | ENSP00000512493.1:n.*304C>T | |
| ENST00000399837.8:c.752C>T MANE Select | ENSP00000382731.2:p.Pro251Leu | |
| ENST00000449907.7:c.626C>T | ENSP00000406443.2:p.Pro209Leu | |
| ENST00000649540.1:c.626C>T | ENSP00000497469.1:p.Pro209Leu | |
| ENST00000649915.1:c.615C>T | ||
| ENST00000650635.1:n.752C>T | ||
| ENST00000262607.3:c.752C>T | ENSP00000262607.2:p.Pro251Leu | |
| ENST00000399837.6:c.752C>T | ENSP00000382731.2:p.Pro251Leu | |
| ENST00000399839.5:c.752C>T | ENSP00000382733.1:p.Pro251Leu | |
| ENST00000449907.6:c.626C>T | ENSP00000406443.2:p.Pro209Leu | |
| ENST00000610390.4:c.392C>T | ENSP00000483418.1:p.Pro131Leu | |
| NM_001282225.1:c.752C>T | NP_001269154.1:p.Pro251Leu | |
| NM_001282226.1:c.752C>T | NP_001269155.1:p.Pro251Leu | |
| NM_001282227.1:c.626C>T | NP_001269156.1:p.Pro209Leu | |
| NM_001282228.1:c.626C>T | NP_001269157.1:p.Pro209Leu | |
| NM_001282229.1:c.392C>T | NP_001269158.1:p.Pro131Leu | |
| XM_006724080.2:c.-1583C>T | XP_006724143.1:n.-1583C>T | |
| XM_011546133.1:c.752C>T | XP_011544435.1:p.Pro251Leu | |
| NM_001282225.2:c.752C>T MANE Select | NP_001269154.1:p.Pro251Leu | |
| XM_006724080.3:c.-1583C>T | XP_006724143.1:n.-1583C>T | |
| XM_011546133.2:c.752C>T | XP_011544435.1:p.Pro251Leu | |
| NM_001282226.2:c.752C>T | NP_001269155.1:p.Pro251Leu | |
| NM_001282227.2:c.626C>T | NP_001269156.1:p.Pro209Leu | |
| NM_001282228.2:c.626C>T | NP_001269157.1:p.Pro209Leu | |
| NM_001282229.2:c.392C>T | NP_001269158.1:p.Pro131Leu |