Linked Data
ClinVar Variation Id:
1581528
dbSNP Id:
rs1465650547
gnomAD v2:
15-89868683-G-A
gnomAD v3:
15-89325452-G-A
gnomAD v4:
15-89325452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325452G>A , CM000677.2:g.89325452G>A | GRCh38 |
| NC_000015.9:g.89868683G>A , CM000677.1:g.89868683G>A | GRCh37 |
| NC_000015.8:g.87669687G>A | NCBI36 |
| NG_008218.1:g.14344C>T | |
| NG_008218.2:g.14344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1947C>T | ENSP00000516154.1:p.Tyr649= | |
| ENST00000268124.11:c.1947C>T MANE Select | ENSP00000268124.5:p.Tyr649= | |
| ENST00000530292.3:c.1548C>T | ENSP00000432885.2:p.Tyr516= | |
| ENST00000635986.2:c.1947C>T | ENSP00000490653.2:p.Tyr649= | |
| ENST00000636774.1:c.*514C>T | ENSP00000489799.1:n.*514C>T | |
| ENST00000637238.1:c.646+38C>T | ENSP00000490756.1:n.646+38C>T | |
| ENST00000637264.1:c.1019C>T | ||
| ENST00000666746.1:c.1524C>T | ||
| ENST00000670281.1:c.267C>T | ENSP00000499709.1:p.Tyr89= | |
| ENST00000672071.1:n.2145C>T | ||
| ENST00000672923.2:n.2050C>T | ||
| ENST00000268124.9:c.1947C>T | ENSP00000268124.5:p.Tyr649= | |
| ENST00000442287.6:c.1947C>T | ENSP00000399851.2:p.Tyr649= | |
| ENST00000526314.2:c.329C>T | ||
| ENST00000526398.1:c.136C>T | ||
| ENST00000526573.1:n.33C>T | ||
| ENST00000532584.5:n.149C>T | ||
| ENST00000631044.2:c.*1330C>T | ENSP00000486730.1:n.*1330C>T | |
| NM_001126131.1:c.1947C>T | NP_001119603.1:p.Tyr649= | |
| NM_002693.2:c.1947C>T | NP_002684.1:p.Tyr649= | |
| NM_001126131.2:c.1947C>T | NP_001119603.1:p.Tyr649= | |
| NM_002693.3:c.1947C>T MANE Select | NP_002684.1:p.Tyr649= |