Linked Data
ClinVar Variation Id:
1625258
ClinVar RCV Id:
RCV002106711
dbSNP Id:
rs574285705
ExAC:
1:197446844 T / G
gnomAD v2:
1-197446844-T-G
gnomAD v3:
1-197477714-T-G
gnomAD v4:
1-197477714-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197477714T>G , CM000663.2:g.197477714T>G | GRCh38 |
| NC_000001.10:g.197446844T>G , CM000663.1:g.197446844T>G | GRCh37 |
| NC_000001.9:g.195713467T>G | NCBI36 |
| NG_008483.1:g.214437T>G | |
| NG_008483.2:g.281253T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.4056T>G MANE Select | ENSP00000356370.3:p.Thr1352= | |
| ENST00000367399.6:c.3720T>G | ENSP00000356369.2:p.Thr1240= | |
| ENST00000367400.7:c.4056T>G | ENSP00000356370.3:p.Thr1352= | |
| ENST00000448952.1:c.290T>G | ENSP00000395407.1:n.290T>G | |
| ENST00000484075.5:c.*167T>G | ENSP00000433932.1:n.*167T>G | |
| ENST00000535699.5:c.3984T>G | ENSP00000438786.1:p.Thr1328= | |
| ENST00000538660.5:c.2448T>G | ENSP00000438091.1:p.Thr816= | |
| NM_001193640.1:c.3720T>G | NP_001180569.1:p.Thr1240= | |
| NM_001257965.1:c.3984T>G | NP_001244894.1:p.Thr1328= | |
| NM_001257966.1:c.2448T>G | NP_001244895.1:p.Thr816= | |
| NM_201253.2:c.4056T>G | NP_957705.1:p.Thr1352= | |
| NR_047563.1:n.4057T>G | ||
| NR_047564.1:n.4507T>G | ||
| XM_011509366.1:c.*161T>G | XP_011507668.1:n.*161T>G | |
| XM_011509367.1:c.*35T>G | XP_011507669.1:n.*35T>G | |
| XM_011509368.1:c.3474T>G | XP_011507670.1:p.Thr1158= | |
| XM_011509369.1:c.2499T>G | XP_011507671.1:p.Thr833= | |
| XM_011509369.2:c.2499T>G | XP_011507671.1:p.Thr833= | |
| XM_017000851.1:c.3213T>G | XP_016856340.1:p.Thr1071= | |
| XM_017000852.1:c.4191T>G | XP_016856341.1:p.Thr1397= | |
| NM_201253.3:c.4056T>G MANE Select | NP_957705.1:p.Thr1352= | |
| NM_001193640.2:c.3720T>G | NP_001180569.1:p.Thr1240= | |
| NM_001257965.2:c.3984T>G | NP_001244894.1:p.Thr1328= | |
| NR_047563.2:n.4009T>G | ||
| NR_047564.2:n.4459T>G | ||
| NM_001257966.2:c.2448T>G | NP_001244895.1:p.Thr816= |