Linked Data
ClinVar Variation Id:
379072
dbSNP Id:
rs768007761
ExAC:
2:145147231 G / A
gnomAD v2:
2-145147231-G-A
gnomAD v3:
2-144389664-G-A
gnomAD v4:
2-144389664-G-A
COSMIC:
COSM1399799
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389664G>A , CM000664.2:g.144389664G>A | GRCh38 |
| NC_000002.11:g.145147231G>A , CM000664.1:g.145147231G>A | GRCh37 |
| NC_000002.10:g.144863701G>A | NCBI36 |
| NG_016431.1:g.135728C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689298.1:c.*3281C>T | ENSP00000508434.1:n.*3281C>T | |
| ENST00000440875.6:c.2655C>T | ENSP00000475553.3:p.Gly885= | |
| ENST00000627532.3:c.3432C>T MANE Select | ENSP00000487174.1:p.Gly1144= | |
| ENST00000636026.2:c.3320C>T | ENSP00000490776.1:p.Ala1107Val | |
| ENST00000636179.1:n.3401C>T | ||
| ENST00000636413.1:c.3096C>T | ENSP00000490508.1:p.Gly1032= | |
| ENST00000636471.1:c.3507C>T | ENSP00000490317.1:p.Gly1169= | |
| ENST00000636732.2:c.*3149C>T | ENSP00000490175.1:n.*3149C>T | |
| ENST00000636820.1:n.3532C>T | ||
| ENST00000637045.1:c.3096C>T | ENSP00000490141.1:p.Gly1032= | |
| ENST00000637304.1:c.3096C>T | ENSP00000490872.1:p.Gly1032= | |
| ENST00000638007.1:c.3096C>T | ENSP00000490723.1:p.Gly1032= | |
| ENST00000638087.1:c.3096C>T | ENSP00000490673.1:p.Gly1032= | |
| ENST00000638128.1:c.2655C>T | ENSP00000490934.1:p.Gly885= | |
| ENST00000639389.1:c.151+6748C>T | ENSP00000492572.1:n.151+6748C>T | |
| ENST00000647488.1:c.652C>T | ENSP00000494820.1:n.652C>T | |
| ENST00000675069.1:c.963C>T | ENSP00000502467.1:p.Gly321= | |
| ENST00000303660.8:c.3429C>T | ENSP00000302501.4:p.Gly1143= | |
| ENST00000409487.7:c.3432C>T | ENSP00000386854.2:p.Gly1144= | |
| ENST00000419938.5:c.656-782C>T | ENSP00000394777.2:n.656-782C>T | |
| ENST00000539609.7:c.3360C>T | ENSP00000443792.2:p.Gly1120= | |
| ENST00000558170.6:c.3432C>T | ENSP00000454157.1:p.Gly1144= | |
| ENST00000627532.2:c.3432C>T | ENSP00000487174.1:p.Gly1144= | |
| NM_001171653.1:c.3360C>T | NP_001165124.1:p.Gly1120= | |
| NM_014795.3:c.3432C>T | NP_055610.1:p.Gly1144= | |
| XM_006712881.2:c.3432C>T | XP_006712944.1:p.Gly1144= | |
| XM_006712882.2:c.3432C>T | XP_006712945.1:p.Gly1144= | |
| XM_011512231.1:c.3423C>T | XP_011510533.1:p.Gly1141= | |
| XM_011512232.1:c.3411C>T | XP_011510534.1:p.Gly1137= | |
| NM_014795.4:c.3432C>T MANE Select | NP_055610.1:p.Gly1144= | |
| NM_001171653.2:c.3360C>T | NP_001165124.1:p.Gly1120= |