Linked Data
dbSNP Id:
rs7578597
ExAC:
2:43732823 T / C
gnomAD v2:
2-43732823-T-C
gnomAD v3:
2-43505684-T-C
gnomAD v4:
2-43505684-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43505684T>C , CM000664.2:g.43505684T>C | GRCh38 |
| NC_000002.11:g.43732823T>C , CM000664.1:g.43732823T>C | GRCh37 |
| NC_000002.10:g.43586327T>C | NCBI36 |
| NG_051580.1:g.95363A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405975.7:c.3559A>G MANE Select | ENSP00000386088.2:p.Thr1187Ala | |
| ENST00000398653.5:c.*2657A>G | ENSP00000381647.1:n.*2657A>G | |
| ENST00000402796.5:c.2097A>G | ENSP00000385003.1:n.2097A>G | |
| ENST00000405006.8:c.3559A>G | ENSP00000385995.4:p.Thr1187Ala | |
| ENST00000405975.6:c.3559A>G | ENSP00000386088.2:p.Thr1187Ala | |
| ENST00000407351.5:c.1500A>G | ||
| ENST00000408045.7:c.*2654A>G | ENSP00000384172.2:n.*2654A>G | |
| ENST00000436947.1:n.158A>G | ||
| NM_001083953.1:c.3559A>G | NP_001077422.1:p.Thr1187Ala | |
| NM_022065.4:c.3559A>G | NP_071348.3:p.Thr1187Ala | |
| NR_073394.1:n.3691A>G | ||
| XM_006712061.2:c.3559A>G | XP_006712124.1:p.Thr1187Ala | |
| XM_006712062.1:c.3556A>G | XP_006712125.1:p.Thr1186Ala | |
| XM_006712063.1:c.3439A>G | XP_006712126.1:p.Thr1147Ala | |
| XM_006712064.1:c.3559A>G | XP_006712127.1:p.Thr1187Ala | |
| XM_006712065.1:c.3559A>G | XP_006712128.1:p.Thr1187Ala | |
| XM_006712066.1:c.3196A>G | XP_006712129.1:p.Thr1066Ala | |
| XM_006712067.1:c.3193A>G | XP_006712130.1:p.Thr1065Ala | |
| XM_006712068.2:c.3559A>G | XP_006712131.1:p.Thr1187Ala | |
| XM_006712069.2:c.1108A>G | XP_006712132.1:p.Thr370Ala | |
| XM_011533015.1:c.3559A>G | XP_011531317.1:p.Thr1187Ala | |
| XM_011533016.1:c.871A>G | XP_011531318.1:p.Thr291Ala | |
| NM_001345923.1:c.3556A>G | NP_001332852.1:p.Thr1186Ala | |
| NM_001345924.1:c.3436A>G | NP_001332853.1:p.Thr1146Ala | |
| NM_001345925.1:c.3559A>G | NP_001332854.1:p.Thr1187Ala | |
| NR_144316.1:n.3699A>G | ||
| XM_006712064.2:c.3559A>G | XP_006712127.1:p.Thr1187Ala | |
| XM_006712068.3:c.3559A>G | XP_006712131.1:p.Thr1187Ala | |
| XM_006712069.3:c.1108A>G | XP_006712132.1:p.Thr370Ala | |
| XM_011533015.3:c.3559A>G | XP_011531317.1:p.Thr1187Ala | |
| XM_017004675.1:c.871A>G | XP_016860164.1:p.Thr291Ala | |
| NM_001083953.2:c.3559A>G | NP_001077422.1:p.Thr1187Ala | |
| NM_001345923.2:c.3556A>G | NP_001332852.1:p.Thr1186Ala | |
| NM_001345924.2:c.3436A>G | NP_001332853.1:p.Thr1146Ala | |
| NM_001345925.2:c.3559A>G | NP_001332854.1:p.Thr1187Ala | |
| NM_022065.5:c.3559A>G MANE Select | NP_071348.3:p.Thr1187Ala | |
| NR_073394.2:n.3683A>G | ||
| NR_144316.2:n.3691A>G |