Linked Data
dbSNP Id:
rs200301169
gnomAD v2:
9-120475598-A-G
gnomAD v3:
9-117713320-A-G
gnomAD v4:
9-117713320-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117713320A>G , CM000671.2:g.117713320A>G | GRCh38 |
| NC_000009.11:g.120475598A>G , CM000671.1:g.120475598A>G | GRCh37 |
| NC_000009.10:g.119515419A>G | NCBI36 |
| NG_011475.1:g.14139A>G | |
| NG_011475.2:g.13918A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646089.2:c.93+8755A>G | ENSP00000496197.1:n.93+8755A>G | |
| ENST00000697624.1:n.200+8755A>G | ||
| ENST00000697625.1:c.93+8755A>G | ENSP00000513362.1:n.93+8755A>G | |
| ENST00000697636.1:c.93+8755A>G | ENSP00000513366.1:n.93+8755A>G | |
| ENST00000697637.1:c.93+8755A>G | ENSP00000513367.1:n.93+8755A>G | |
| ENST00000697664.1:c.140+4591A>G | ENSP00000513389.1:n.140+4591A>G | |
| ENST00000697665.1:c.93+8755A>G | ENSP00000513390.1:n.93+8755A>G | |
| ENST00000697666.1:c.140+4591A>G | ENSP00000513391.1:n.140+4591A>G | |
| ENST00000355622.8:c.1192A>G MANE Select | ENSP00000363089.5:p.Thr398Ala | |
| ENST00000394487.5:c.1072A>G | ENSP00000377997.4:p.Thr358Ala | |
| ENST00000472304.2:c.*926A>G | ENSP00000496429.1:n.*926A>G | |
| ENST00000642985.1:c.260+4591A>G | ENSP00000493686.1:n.260+4591A>G | |
| ENST00000646089.1:c.93+8755A>G | ENSP00000496197.1:n.93+8755A>G | |
| ENST00000665764.1:c.93+8755A>G | ENSP00000499745.1:n.93+8755A>G | |
| ENST00000355622.6:c.1192A>G | ENSP00000363089.5:p.Thr398Ala | |
| ENST00000394487.4:c.1072A>G | ENSP00000377997.4:p.Thr358Ala | |
| ENST00000472304.1:n.1109A>G | ||
| NM_003266.3:c.1072A>G | NP_003257.1:p.Thr358Ala | |
| NM_138554.4:c.1192A>G | NP_612564.1:p.Thr398Ala | |
| NM_138557.2:c.592A>G | NP_612567.1:p.Thr198Ala | |
| NM_138554.5:c.1192A>G MANE Select | NP_612564.1:p.Thr398Ala | |
| NM_003266.4:c.1072A>G | NP_003257.1:p.Thr358Ala | |
| NM_138557.3:c.592A>G | NP_612567.1:p.Thr198Ala |