Linked Data
ClinVar Variation Id:
355299
dbSNP Id:
rs144901086
ExAC:
6:129802543 A / G
gnomAD v2:
6-129802543-A-G
gnomAD v3:
6-129481398-A-G
gnomAD v4:
6-129481398-A-G
COSMIC:
COSM1440400
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129481398A>G , CM000668.2:g.129481398A>G | GRCh38 |
| NC_000006.11:g.129802543A>G , CM000668.1:g.129802543A>G | GRCh37 |
| NC_000006.10:g.129844236A>G | NCBI36 |
| NG_008678.1:g.603258A>G , LRG_409:g.603258A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7696A>G | ENSP00000481744.2:p.Thr2566Ala | |
| ENST00000618192.5:c.7972A>G | ENSP00000480802.2:p.Thr2658Ala | |
| ENST00000421865.3:c.7708A>G MANE Select | ENSP00000400365.2:p.Thr2570Ala | |
| ENST00000421865.2:c.7708A>G | ENSP00000400365.2:p.Thr2570Ala | |
| ENST00000617695.4:c.7696A>G | ENSP00000481744.1:p.Thr2566Ala | |
| ENST00000618192.4:c.7705A>G | ENSP00000480802.1:p.Thr2569Ala | |
| NM_000426.3:c.7708A>G , LRG_409t1:c.7708A>G | NP_000417.2:p.Thr2570Ala | |
| NM_001079823.1:c.7696A>G | NP_001073291.1:p.Thr2566Ala | |
| XM_005266981.2:c.7972A>G | XP_005267038.1:p.Thr2658Ala | |
| XM_005266982.2:c.7960A>G | XP_005267039.1:p.Thr2654Ala | |
| XM_011535820.1:c.7966A>G | XP_011534122.1:p.Thr2656Ala | |
| XM_005266981.3:c.7972A>G | XP_005267038.1:p.Thr2658Ala | |
| XM_005266982.3:c.7960A>G | XP_005267039.1:p.Thr2654Ala | |
| XM_011535820.2:c.7966A>G | XP_011534122.1:p.Thr2656Ala | |
| XM_017010851.2:c.7978A>G | XP_016866340.1:p.Thr2660Ala | |
| XM_017010852.1:c.6103A>G | XP_016866341.1:p.Thr2035Ala | |
| NM_000426.4:c.7708A>G MANE Select | NP_000417.3:p.Thr2570Ala | |
| NM_001079823.2:c.7696A>G | NP_001073291.2:p.Thr2566Ala |