Linked Data
ClinVar Variation Id:
2807142
ClinVar RCV Id:
RCV003682166
dbSNP Id:
rs1396292043
gnomAD v2:
5-34929939-T-G
gnomAD v3:
5-34929834-T-G
gnomAD v4:
5-34929834-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34929834T>G , CM000667.2:g.34929834T>G | GRCh38 |
| NC_000005.9:g.34929939T>G , CM000667.1:g.34929939T>G | GRCh37 |
| NC_000005.8:g.34965696T>G | NCBI36 |
| NG_052822.1:g.5295T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512136.2:n.242T>G | ||
| ENST00000642851.1:c.15T>G | ENSP00000496545.1:p.Tyr5Ter | |
| ENST00000648817.1:c.15T>G MANE Select | ENSP00000497410.1:p.Tyr5Ter | |
| ENST00000342382.8:c.15T>G | ENSP00000343728.4:p.Tyr5Ter | |
| ENST00000382021.2:c.15T>G | ENSP00000371451.2:p.Tyr5Ter | |
| NM_001012339.2:c.15T>G | NP_001012339.2:p.Tyr5Ter | |
| NM_194283.3:c.15T>G | NP_919259.3:p.Tyr5Ter | |
| XM_005248249.3:c.15T>G | XP_005248306.1:p.Tyr5Ter | |
| XM_005248250.2:c.15T>G | XP_005248307.1:p.Tyr5Ter | |
| XM_011513965.1:c.15T>G | XP_011512267.1:p.Tyr5Ter | |
| XM_011513966.1:c.15T>G | XP_011512268.1:p.Tyr5Ter | |
| NM_001012339.3:c.15T>G MANE Select | NP_001012339.2:p.Tyr5Ter | |
| NM_001348420.1:c.15T>G | NP_001335349.1:p.Tyr5Ter | |
| XM_005248250.3:c.276T>G | XP_005248307.2:p.Tyr92Ter | |
| XM_011513965.2:c.276T>G | XP_011512267.2:p.Tyr92Ter | |
| XM_011513966.2:c.276T>G | XP_011512268.2:p.Tyr92Ter | |
| NM_001348420.2:c.15T>G | NP_001335349.1:p.Tyr5Ter | |
| NM_194283.4:c.15T>G | NP_919259.3:p.Tyr5Ter |