Linked Data
ClinVar Variation Id:
403233
dbSNP Id:
rs4919633
ExAC:
10:104159196 A / G
gnomAD v2:
10-104159196-A-G
gnomAD v3:
10-102399439-A-G
gnomAD v4:
10-102399439-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102399439A>G , CM000672.2:g.102399439A>G | GRCh38 |
| NC_000010.10:g.104159196A>G , CM000672.1:g.104159196A>G | GRCh37 |
| NC_000010.9:g.104149186A>G | NCBI36 |
| NG_033874.2:g.10330A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697917.1:n.686A>G | ||
| ENST00000697918.1:n.688A>G | ||
| ENST00000697919.1:n.108A>G | ||
| ENST00000189444.11:c.1269A>G | ENSP00000189444.6:p.Pro423= | |
| ENST00000369966.8:c.1269A>G | ENSP00000358983.3:p.Pro423= | |
| ENST00000428099.6:c.1269A>G | ENSP00000410256.1:p.Pro423= | |
| ENST00000651907.1:n.32+2066A>G | ||
| ENST00000652277.1:c.1269A>G | ENSP00000498308.1:p.Pro423= | |
| ENST00000661543.1:c.1269A>G MANE Select | ENSP00000499294.1:p.Pro423= | |
| ENST00000189444.10:c.1269A>G | ENSP00000189444.6:p.Pro423= | |
| ENST00000336486.5:n.516A>G | ||
| ENST00000369966.7:c.1269A>G | ENSP00000358983.3:p.Pro423= | |
| ENST00000428099.5:c.1269A>G | ENSP00000410256.1:p.Pro423= | |
| XM_005269860.1:c.1269A>G | XP_005269917.1:p.Pro423= | |
| XM_005269861.3:c.1269A>G | XP_005269918.1:p.Pro423= | |
| XM_011539830.1:c.834A>G | XP_011538132.1:p.Pro278= | |
| XM_011539831.1:c.834A>G | XP_011538133.1:p.Pro278= | |
| XM_011539830.3:c.834A>G | XP_011538132.1:p.Pro278= | |
| XM_011539831.2:c.834A>G | XP_011538133.1:p.Pro278= | |
| XM_017016278.1:c.1812A>G | XP_016871767.1:p.Pro604= | |
| XM_024448026.1:c.1143A>G | XP_024303794.1:p.Pro381= | |
| XM_024448027.1:c.204A>G | XP_024303795.1:p.Pro68= | |
| NM_001261403.3:c.1269A>G | NP_001248332.1:p.Pro423= | |
| NM_001322934.2:c.1269A>G MANE Select | NP_001309863.1:p.Pro423= | |
| NM_002502.6:c.1269A>G | NP_002493.3:p.Pro423= |