Linked Data
dbSNP Id:
rs3746266
ExAC:
19:18876309 A / G
gnomAD v2:
19-18876309-A-G
gnomAD v3:
19-18765499-A-G
gnomAD v4:
19-18765499-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18765499A>G , CM000681.2:g.18765499A>G | GRCh38 |
| NC_000019.9:g.18876309A>G , CM000681.1:g.18876309A>G | GRCh37 |
| NC_000019.8:g.18737309A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321949.13:c.982A>G MANE Select | ENSP00000323332.7:p.Thr328Ala | |
| ENST00000321949.12:c.982A>G | ENSP00000323332.7:p.Thr328Ala | |
| ENST00000338797.10:c.1030A>G | ENSP00000345001.5:p.Thr344Ala | |
| ENST00000594658.5:c.859A>G | ENSP00000468893.1:p.Thr287Ala | |
| ENST00000601916.1:c.757A>G | ENSP00000469285.1:p.Thr253Ala | |
| NM_001098482.1:c.1030A>G | NP_001091952.1:p.Thr344Ala | |
| NM_015321.2:c.982A>G | NP_056136.2:p.Thr328Ala | |
| XM_005259833.2:c.1030A>G | XP_005259890.1:p.Thr344Ala | |
| XM_005259834.1:c.982A>G | XP_005259891.1:p.Thr328Ala | |
| XM_005259835.2:c.1030A>G | XP_005259892.1:p.Thr344Ala | |
| XM_005259836.2:c.1030A>G | XP_005259893.1:p.Thr344Ala | |
| XM_006722710.2:c.1030A>G | XP_006722773.1:p.Thr344Ala | |
| XM_011527842.1:c.1030A>G | XP_011526144.1:p.Thr344Ala | |
| XM_005259833.3:c.1030A>G | XP_005259890.1:p.Thr344Ala | |
| XM_005259835.3:c.1030A>G | XP_005259892.1:p.Thr344Ala | |
| XM_005259836.3:c.1030A>G | XP_005259893.1:p.Thr344Ala | |
| XM_006722710.3:c.1030A>G | XP_006722773.1:p.Thr344Ala | |
| XM_011527842.3:c.1030A>G | XP_011526144.1:p.Thr344Ala | |
| XM_017026536.1:c.1030A>G | XP_016882025.1:p.Thr344Ala | |
| XM_017026537.1:c.1030A>G | XP_016882026.1:p.Thr344Ala | |
| XM_024451434.1:c.982A>G | XP_024307202.1:p.Thr328Ala | |
| NM_015321.3:c.982A>G MANE Select | NP_056136.2:p.Thr328Ala | |
| NM_001098482.2:c.1030A>G | NP_001091952.1:p.Thr344Ala |