Linked Data
ClinVar Variation Id:
2147481
dbSNP Id:
rs746776449
ExAC:
19:12761036 T / C
gnomAD v2:
19-12761036-T-C
gnomAD v4:
19-12650222-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12650222T>C , CM000681.2:g.12650222T>C | GRCh38 |
| NC_000019.9:g.12761036T>C , CM000681.1:g.12761036T>C | GRCh37 |
| NC_000019.8:g.12622036T>C | NCBI36 |
| NG_008318.1:g.21556A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2047A>G MANE Select | ENSP00000395473.2:p.Thr683Ala | |
| ENST00000221363.8:c.2044A>G | ENSP00000221363.4:p.Thr682Ala | |
| ENST00000456935.6:c.2047A>G | ENSP00000395473.2:p.Thr683Ala | |
| ENST00000466794.5:n.2637A>G | ||
| NM_000528.3:c.2047A>G | NP_000519.2:p.Thr683Ala | |
| NM_001173498.1:c.2044A>G | NP_001166969.1:p.Thr682Ala | |
| XM_005259913.1:c.2050A>G | XP_005259970.1:p.Thr684Ala | |
| XM_011528017.1:c.946A>G | XP_011526319.1:p.Thr316Ala | |
| XM_005259913.2:c.2050A>G | XP_005259970.1:p.Thr684Ala | |
| XM_024451518.1:c.946A>G | XP_024307286.1:p.Thr316Ala | |
| NM_000528.4:c.2047A>G MANE Select | NP_000519.2:p.Thr683Ala | |
| NM_001173498.2:c.2044A>G | NP_001166969.1:p.Thr682Ala |