Linked Data
ClinVar Variation Id:
542951
dbSNP Id:
rs762463914
ExAC:
3:182817228 T / C
gnomAD v2:
3-182817228-T-C
gnomAD v3:
3-183099440-T-C
gnomAD v4:
3-183099440-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183099440T>C , CM000665.2:g.183099440T>C | GRCh38 |
| NC_000003.11:g.182817228T>C , CM000665.1:g.182817228T>C | GRCh37 |
| NC_000003.10:g.184299922T>C | NCBI36 |
| NG_008100.1:g.5138A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.1A>G MANE Select | ENSP00000265594.4:p.Met1Val | |
| ENST00000265594.8:c.1A>G | ENSP00000265594.4:p.Met1Val | |
| ENST00000466650.5:c.1A>G | ENSP00000418979.1:p.Met1Val | |
| ENST00000476176.5:c.1A>G | ENSP00000420433.1:p.Met1Val | |
| ENST00000486226.1:c.1A>G | ENSP00000420223.1:p.Met1Val | |
| ENST00000487634.5:c.1A>G | ENSP00000420591.1:p.Met1Val | |
| ENST00000490284.5:c.1A>G | ENSP00000419328.1:p.Met1Val | |
| ENST00000492597.5:c.-101-4835A>G | ENSP00000419898.1:n.-101-4835A>G | |
| ENST00000495767.5:c.1A>G | ENSP00000419658.1:p.Met1Val | |
| ENST00000497830.5:c.1A>G | ENSP00000420088.1:p.Met1Val | |
| ENST00000539926.5:c.-190A>G | ENSP00000441253.2:n.-190A>G | |
| ENST00000610757.4:c.-327A>G | ENSP00000480435.1:n.-327A>G | |
| ENST00000629669.2:c.-114A>G | ENSP00000486824.1:n.-114A>G | |
| NM_001293273.1:c.-92A>G | NP_001280202.1:n.-92A>G | |
| NM_020166.4:c.1A>G | NP_064551.3:p.Met1Val | |
| NR_120639.1:n.148A>G | ||
| XM_006713702.1:c.-190A>G | XP_006713765.1:n.-190A>G | |
| XM_011512993.1:c.1A>G | XP_011511295.1:p.Met1Val | |
| XR_241502.2:n.148A>G | ||
| XR_924159.1:n.148A>G | ||
| NM_001363880.1:c.-190A>G | NP_001350809.1:n.-190A>G | |
| XR_001740207.2:n.124A>G | ||
| XR_001740208.2:n.124A>G | ||
| XR_001740209.2:n.94A>G | ||
| XR_001740210.1:n.91A>G | ||
| XR_002959553.1:n.124A>G | ||
| XR_002959554.1:n.124A>G | ||
| XR_241502.3:n.94A>G | ||
| NM_020166.5:c.1A>G MANE Select | NP_064551.3:p.Met1Val | |
| NM_001293273.2:c.-92A>G | NP_001280202.1:n.-92A>G | |
| NR_120639.2:n.57A>G |