Linked Data
ClinVar Variation Id:
2610055
ClinVar RCV Id:
RCV004353705
dbSNP Id:
rs767515238
ExAC:
20:54961423 G / A
gnomAD v2:
20-54961423-G-A
gnomAD v3:
20-56386367-G-A
gnomAD v4:
20-56386367-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56386367G>A , CM000682.2:g.56386367G>A | GRCh38 |
| NC_000020.10:g.54961423G>A , CM000682.1:g.54961423G>A | GRCh37 |
| NC_000020.9:g.54394830G>A | NCBI36 |
| NG_012133.1:g.10929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395915.8:c.209C>T MANE Select | ENSP00000379251.3:p.Pro70Leu | |
| ENST00000312783.10:c.209C>T | ENSP00000321591.6:p.Pro70Leu | |
| ENST00000347343.6:c.209C>T | ENSP00000216911.2:p.Pro70Leu | |
| ENST00000371356.6:c.209C>T | ENSP00000360407.2:p.Pro70Leu | |
| ENST00000395907.5:c.209C>T | ENSP00000379243.1:p.Pro70Leu | |
| ENST00000395911.5:c.209C>T | ENSP00000379247.1:p.Pro70Leu | |
| ENST00000395913.7:c.209C>T | ENSP00000379249.3:p.Pro70Leu | |
| ENST00000395914.5:c.209C>T | ENSP00000379250.1:p.Pro70Leu | |
| ENST00000395915.7:c.209C>T | ENSP00000379251.3:p.Pro70Leu | |
| ENST00000420474.5:c.209C>T | ENSP00000388073.1:p.Pro70Leu | |
| ENST00000422322.5:c.209C>T | ENSP00000405042.1:p.Pro70Leu | |
| ENST00000441357.5:c.209C>T | ENSP00000393452.1:p.Pro70Leu | |
| ENST00000451915.1:c.209C>T | ENSP00000401358.1:p.Pro70Leu | |
| ENST00000456249.5:c.209C>T | ENSP00000405170.1:p.Pro70Leu | |
| NM_003600.2:c.209C>T | NP_003591.2:p.Pro70Leu | |
| NM_198433.1:c.209C>T | NP_940835.1:p.Pro70Leu | |
| NM_198434.1:c.209C>T | NP_940836.1:p.Pro70Leu | |
| NM_198435.1:c.209C>T | NP_940837.1:p.Pro70Leu | |
| NM_198436.1:c.209C>T | NP_940838.1:p.Pro70Leu | |
| NM_198437.1:c.209C>T | NP_940839.1:p.Pro70Leu | |
| XM_005260534.1:c.209C>T | XP_005260591.1:p.Pro70Leu | |
| XM_006723872.1:c.209C>T | XP_006723935.1:p.Pro70Leu | |
| XM_011529021.1:c.209C>T | XP_011527323.1:p.Pro70Leu | |
| NM_001323303.1:c.209C>T | NP_001310232.1:p.Pro70Leu | |
| NM_001323304.1:c.209C>T | NP_001310233.1:p.Pro70Leu | |
| NM_001323305.1:c.209C>T | NP_001310234.1:p.Pro70Leu | |
| NM_003600.3:c.209C>T | NP_003591.2:p.Pro70Leu | |
| NM_198433.2:c.209C>T | NP_940835.1:p.Pro70Leu | |
| NM_198434.2:c.209C>T | NP_940836.1:p.Pro70Leu | |
| NM_198435.2:c.209C>T | NP_940837.1:p.Pro70Leu | |
| NM_198436.2:c.209C>T | NP_940838.1:p.Pro70Leu | |
| NM_198437.2:c.209C>T | NP_940839.1:p.Pro70Leu | |
| XM_017028034.2:c.311C>T | XP_016883523.1:p.Pro104Leu | |
| XM_017028035.1:c.209C>T | XP_016883524.1:p.Pro70Leu | |
| XM_024451974.1:c.209C>T | XP_024307742.1:p.Pro70Leu | |
| NM_001323303.2:c.209C>T | NP_001310232.1:p.Pro70Leu | |
| NM_001323304.2:c.209C>T | NP_001310233.1:p.Pro70Leu | |
| NM_001323305.2:c.209C>T | NP_001310234.1:p.Pro70Leu | |
| NM_003600.4:c.209C>T | NP_003591.2:p.Pro70Leu | |
| NM_198433.3:c.209C>T | NP_940835.1:p.Pro70Leu | |
| NM_198435.3:c.209C>T | NP_940837.1:p.Pro70Leu | |
| NM_198436.3:c.209C>T | NP_940838.1:p.Pro70Leu | |
| NM_198437.3:c.209C>T MANE Select | NP_940839.1:p.Pro70Leu | |
| NM_198434.3:c.209C>T | NP_940836.1:p.Pro70Leu |