Linked Data
ClinVar Variation Id:
193999
dbSNP Id:
rs794727049
gnomAD v2:
5-74016313-T-G
gnomAD v3:
5-74720488-T-G
gnomAD v4:
5-74720488-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74720488T>G , CM000667.2:g.74720488T>G | GRCh38 |
| NC_000005.9:g.74016313T>G , CM000667.1:g.74016313T>G | GRCh37 |
| NC_000005.8:g.74052069T>G | NCBI36 |
| NG_009770.1:g.40345T>G | |
| NG_011531.1:g.51730A>C | |
| NG_009770.2:g.85466T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.1478T>G MANE Select | ENSP00000261416.7:p.Val493Gly | |
| ENST00000261416.11:c.1478T>G | ENSP00000261416.7:p.Val493Gly | |
| ENST00000503312.5:c.354T>G | ||
| ENST00000504459.5:n.675T>G | ||
| ENST00000505859.1:c.1T>G | ||
| ENST00000509579.1:c.-86T>G | ENSP00000424939.1:n.-86T>G | |
| ENST00000511181.5:c.803T>G | ENSP00000426285.1:p.Val268Gly | |
| ENST00000513336.5:c.414T>G | ||
| ENST00000513539.1:n.197T>G | ||
| NM_000521.3:c.1478T>G | NP_000512.1:p.Val493Gly | |
| NM_001292004.1:c.803T>G | NP_001278933.1:p.Val268Gly | |
| NM_000521.4:c.1478T>G MANE Select | NP_000512.2:p.Val493Gly | |
| NM_001292004.2:c.803T>G | NP_001278933.1:p.Val268Gly |