Linked Data
ClinVar Variation Id:
1929
dbSNP Id:
rs119103212
ExAC:
3:182763310 A / C
gnomAD v2:
3-182763310-A-C
gnomAD v3:
3-183045522-A-C
gnomAD v4:
3-183045522-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183045522A>C , CM000665.2:g.183045522A>C | GRCh38 |
| NC_000003.11:g.182763310A>C , CM000665.1:g.182763310A>C | GRCh37 |
| NC_000003.10:g.184246004A>C | NCBI36 |
| NG_008100.1:g.59056T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.974T>G MANE Select | ENSP00000265594.4:p.Met325Arg | |
| ENST00000265594.8:c.974T>G | ENSP00000265594.4:p.Met325Arg | |
| ENST00000476176.5:c.833T>G | ENSP00000420433.1:p.Met278Arg | |
| ENST00000492597.5:c.647T>G | ENSP00000419898.1:p.Met216Arg | |
| ENST00000495767.5:c.*555T>G | ENSP00000419658.1:n.*555T>G | |
| ENST00000497830.5:c.*571T>G | ENSP00000420088.1:n.*571T>G | |
| ENST00000497959.5:c.860T>G | ENSP00000420648.1:p.Met287Arg | |
| ENST00000539926.5:c.524T>G | ENSP00000441253.2:p.Met175Arg | |
| ENST00000610757.4:c.524T>G | ENSP00000480435.1:p.Met175Arg | |
| ENST00000629669.2:c.860T>G | ENSP00000486824.1:p.Met287Arg | |
| NM_001293273.1:c.623T>G | NP_001280202.1:p.Met208Arg | |
| NM_020166.4:c.974T>G | NP_064551.3:p.Met325Arg | |
| NR_120639.1:n.888T>G | ||
| NR_120640.1:n.1641T>G | ||
| XM_006713702.1:c.647T>G | XP_006713765.1:p.Met216Arg | |
| XM_011512992.1:c.860T>G | XP_011511294.1:p.Met287Arg | |
| XM_011512993.1:c.974T>G | XP_011511295.1:p.Met325Arg | |
| XR_241502.2:n.1121T>G | ||
| XR_924159.1:n.1121T>G | ||
| NM_001363880.1:c.647T>G | NP_001350809.1:p.Met216Arg | |
| XM_011512992.2:c.860T>G | XP_011511294.1:p.Met287Arg | |
| XR_001740207.2:n.1097T>G | ||
| XR_001740208.2:n.1097T>G | ||
| XR_001740209.2:n.1067T>G | ||
| XR_001740210.1:n.927T>G | ||
| XR_002959553.1:n.1097T>G | ||
| XR_002959554.1:n.1097T>G | ||
| XR_241502.3:n.1067T>G | ||
| NM_020166.5:c.974T>G MANE Select | NP_064551.3:p.Met325Arg | |
| NM_001293273.2:c.623T>G | NP_001280202.1:p.Met208Arg | |
| NR_120639.2:n.797T>G | ||
| NR_120640.2:n.1641T>G |