Linked Data
ClinVar Variation Id:
137954
dbSNP Id:
rs572507342
ExAC:
2:145154073 G / A
gnomAD v2:
2-145154073-G-A
gnomAD v3:
2-144396506-G-A
gnomAD v4:
2-144396506-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144396506G>A , CM000664.2:g.144396506G>A | GRCh38 |
| NC_000002.11:g.145154073G>A , CM000664.1:g.145154073G>A | GRCh37 |
| NC_000002.10:g.144870543G>A | NCBI36 |
| NG_016431.1:g.128886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2822C>T | ENSP00000508434.1:n.*2822C>T | |
| ENST00000440875.6:c.2196C>T | ENSP00000475553.3:p.Ile732= | |
| ENST00000627532.3:c.2973C>T MANE Select | ENSP00000487174.1:p.Ile991= | |
| ENST00000636026.2:c.2973C>T | ENSP00000490776.1:p.Ile991= | |
| ENST00000636179.1:n.2942C>T | ||
| ENST00000636413.1:c.2637C>T | ENSP00000490508.1:p.Ile879= | |
| ENST00000636471.1:c.3048C>T | ENSP00000490317.1:p.Ile1016= | |
| ENST00000636732.2:c.*2690C>T | ENSP00000490175.1:n.*2690C>T | |
| ENST00000636820.1:n.3073C>T | ||
| ENST00000637045.1:c.2637C>T | ENSP00000490141.1:p.Ile879= | |
| ENST00000637304.1:c.2637C>T | ENSP00000490872.1:p.Ile879= | |
| ENST00000638007.1:c.2637C>T | ENSP00000490723.1:p.Ile879= | |
| ENST00000638087.1:c.2637C>T | ENSP00000490673.1:p.Ile879= | |
| ENST00000638128.1:c.2196C>T | ENSP00000490934.1:p.Ile732= | |
| ENST00000639389.1:c.57C>T | ENSP00000492572.1:p.Ile19= | |
| ENST00000647488.1:c.105C>T | ENSP00000494820.1:p.Ile35= | |
| ENST00000675069.1:c.504C>T | ENSP00000502467.1:p.Ile168= | |
| ENST00000303660.8:c.2970C>T | ENSP00000302501.4:p.Ile990= | |
| ENST00000409487.7:c.2973C>T | ENSP00000386854.2:p.Ile991= | |
| ENST00000419938.5:c.655+4693C>T | ENSP00000394777.2:n.655+4693C>T | |
| ENST00000539609.7:c.2901C>T | ENSP00000443792.2:p.Ile967= | |
| ENST00000558170.6:c.2973C>T | ENSP00000454157.1:p.Ile991= | |
| ENST00000627532.2:c.2973C>T | ENSP00000487174.1:p.Ile991= | |
| NM_001171653.1:c.2901C>T | NP_001165124.1:p.Ile967= | |
| NM_014795.3:c.2973C>T | NP_055610.1:p.Ile991= | |
| XM_006712881.2:c.2973C>T | XP_006712944.1:p.Ile991= | |
| XM_006712882.2:c.2973C>T | XP_006712945.1:p.Ile991= | |
| XM_011512231.1:c.2964C>T | XP_011510533.1:p.Ile988= | |
| XM_011512232.1:c.2952C>T | XP_011510534.1:p.Ile984= | |
| NM_014795.4:c.2973C>T MANE Select | NP_055610.1:p.Ile991= | |
| NM_001171653.2:c.2901C>T | NP_001165124.1:p.Ile967= |