Linked Data
ClinVar Variation Id:
499517
dbSNP Id:
rs763189481
ExAC:
2:25457211 T / C
gnomAD v2:
2-25457211-T-C
gnomAD v3:
2-25234342-T-C
gnomAD v4:
2-25234342-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25234342T>C , CM000664.2:g.25234342T>C | GRCh38 |
| NC_000002.11:g.25457211T>C , CM000664.1:g.25457211T>C | GRCh37 |
| NC_000002.10:g.25310715T>C | NCBI36 |
| NG_029465.2:g.113249A>G , LRG_459:g.113249A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.925A>G | ||
| ENST00000683393.1:c.1822A>G | ENSP00000508654.1:n.1822A>G | |
| ENST00000683760.1:c.2007A>G | ENSP00000507765.1:p.Ser669= | |
| ENST00000321117.10:c.2676A>G MANE Select | ENSP00000324375.5:p.Ser892= | |
| ENST00000264709.7:c.2676A>G | ENSP00000264709.3:p.Ser892= | |
| ENST00000321117.9:c.2676A>G | ENSP00000324375.5:p.Ser892= | |
| ENST00000380746.8:c.2109A>G | ENSP00000370122.4:p.Ser703= | |
| ENST00000380756.7:c.*529A>G | ENSP00000370132.3:n.*529A>G | |
| ENST00000402667.1:c.2007A>G | ENSP00000384237.1:p.Ser669= | |
| NM_022552.4:c.2676A>G , LRG_459t1:c.2676A>G | NP_072046.2:p.Ser892= | |
| NM_153759.3:c.2109A>G , LRG_459t2:c.2109A>G | NP_715640.2:p.Ser703= | |
| NM_175629.2:c.2676A>G , LRG_459t4:c.2676A>G | NP_783328.1:p.Ser892= | |
| XM_005264175.3:c.2676A>G | XP_005264232.1:p.Ser892= | |
| XM_005264177.3:c.2007A>G | XP_005264234.1:p.Ser669= | |
| XM_006711958.2:c.2232A>G | XP_006712021.1:p.Ser744= | |
| XM_011532662.1:c.2529A>G | XP_011530964.1:p.Ser843= | |
| XM_011532663.1:c.2511A>G | XP_011530965.1:p.Ser837= | |
| XM_011532665.1:c.2220A>G | XP_011530967.1:p.Ser740= | |
| XM_011532666.1:c.2148A>G | XP_011530968.1:p.Ser716= | |
| XM_011532667.1:c.2007A>G | XP_011530969.1:p.Ser669= | |
| NM_001320893.1:c.2220A>G | NP_001307822.1:p.Ser740= | |
| NR_135490.1:n.3213A>G | ||
| XM_005264175.5:c.2676A>G | XP_005264232.1:p.Ser892= | |
| XM_005264177.4:c.2007A>G | XP_005264234.1:p.Ser669= | |
| XM_011532662.2:c.2529A>G | XP_011530964.1:p.Ser843= | |
| XM_011532663.2:c.2511A>G | XP_011530965.1:p.Ser837= | |
| XM_011532666.2:c.2148A>G | XP_011530968.1:p.Ser716= | |
| XM_011532667.3:c.2007A>G | XP_011530969.1:p.Ser669= | |
| XM_017003526.1:c.2676A>G | XP_016859015.1:p.Ser892= | |
| XM_017003527.1:c.2007A>G | XP_016859016.1:p.Ser669= | |
| XR_001738657.1:n.2883A>G | ||
| NM_001375819.1:c.2007A>G | NP_001362748.1:p.Ser669= | |
| NR_135490.2:n.3106A>G | ||
| NM_022552.5:c.2676A>G MANE Select | NP_072046.2:p.Ser892= |