Linked Data
ClinVar Variation Id:
519821
dbSNP Id:
rs768722316
ExAC:
5:127670414 T / C
gnomAD v2:
5-127670414-T-C
gnomAD v3:
5-128334722-T-C
gnomAD v4:
5-128334722-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128334722T>C , CM000667.2:g.128334722T>C | GRCh38 |
| NC_000005.9:g.127670414T>C , CM000667.1:g.127670414T>C | GRCh37 |
| NC_000005.8:g.127698313T>C | NCBI36 |
| NG_008750.1:g.208322A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.880A>G | ||
| ENST00000703785.1:n.961A>G | ||
| ENST00000262464.9:c.4096A>G MANE Select | ENSP00000262464.4:p.Thr1366Ala | |
| ENST00000262464.8:c.4096A>G | ENSP00000262464.4:p.Thr1366Ala | |
| ENST00000507835.5:c.646A>G | ENSP00000426839.1:p.Thr216Ala | |
| ENST00000508053.5:c.4096A>G | ENSP00000424571.1:p.Thr1366Ala | |
| ENST00000508989.5:c.3997A>G | ENSP00000425596.1:p.Thr1333Ala | |
| ENST00000619499.4:c.4093A>G | ENSP00000482132.1:p.Thr1365Ala | |
| NM_001999.3:c.4096A>G | NP_001990.2:p.Thr1366Ala | |
| XM_017009228.2:c.3943A>G | XP_016864717.1:p.Thr1315Ala | |
| NM_001999.4:c.4096A>G MANE Select | NP_001990.2:p.Thr1366Ala |