Linked Data
ClinVar Variation Id:
181713
ClinVar RCV Id:
RCV000159449
dbSNP Id:
rs730881176
gnomAD v4:
2-144399307-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144399307A>C , CM000664.2:g.144399307A>C | GRCh38 |
| NC_000002.11:g.145156874A>C , CM000664.1:g.145156874A>C | GRCh37 |
| NC_000002.10:g.144873344A>C | NCBI36 |
| NG_016431.1:g.126085T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*1729T>G | ENSP00000508434.1:n.*1729T>G | |
| ENST00000440875.6:c.1103T>G | ENSP00000475553.3:p.Val368Gly | |
| ENST00000627532.3:c.1880T>G MANE Select | ENSP00000487174.1:p.Val627Gly | |
| ENST00000636026.2:c.1880T>G | ENSP00000490776.1:p.Val627Gly | |
| ENST00000636179.1:n.1849T>G | ||
| ENST00000636413.1:c.1544T>G | ENSP00000490508.1:p.Val515Gly | |
| ENST00000636471.1:c.1955T>G | ENSP00000490317.1:p.Val652Gly | |
| ENST00000636732.2:c.*1597T>G | ENSP00000490175.1:n.*1597T>G | |
| ENST00000636820.1:n.1980T>G | ||
| ENST00000637045.1:c.1544T>G | ENSP00000490141.1:p.Val515Gly | |
| ENST00000637304.1:c.1544T>G | ENSP00000490872.1:p.Val515Gly | |
| ENST00000638007.1:c.1544T>G | ENSP00000490723.1:p.Val515Gly | |
| ENST00000638087.1:c.1544T>G | ENSP00000490673.1:p.Val515Gly | |
| ENST00000638128.1:c.1103T>G | ENSP00000490934.1:p.Val368Gly | |
| ENST00000675069.1:c.-133-457T>G | ENSP00000502467.1:n.-133-457T>G | |
| ENST00000675145.1:n.2428T>G | ||
| ENST00000303660.8:c.1877T>G | ENSP00000302501.4:p.Val626Gly | |
| ENST00000409487.7:c.1880T>G | ENSP00000386854.2:p.Val627Gly | |
| ENST00000419938.5:c.655+1892T>G | ENSP00000394777.2:n.655+1892T>G | |
| ENST00000427902.5:c.1967T>G | ENSP00000395496.2:p.Val656Gly | |
| ENST00000440875.5:c.1167+230T>G | ENSP00000475553.2:n.1167+230T>G | |
| ENST00000539609.7:c.1808T>G | ENSP00000443792.2:p.Val603Gly | |
| ENST00000558170.6:c.1880T>G | ENSP00000454157.1:p.Val627Gly | |
| ENST00000627532.2:c.1880T>G | ENSP00000487174.1:p.Val627Gly | |
| NM_001171653.1:c.1808T>G | NP_001165124.1:p.Val603Gly | |
| NM_014795.3:c.1880T>G | NP_055610.1:p.Val627Gly | |
| XM_006712881.2:c.1880T>G | XP_006712944.1:p.Val627Gly | |
| XM_006712882.2:c.1880T>G | XP_006712945.1:p.Val627Gly | |
| XM_011512231.1:c.1871T>G | XP_011510533.1:p.Val624Gly | |
| XM_011512232.1:c.1859T>G | XP_011510534.1:p.Val620Gly | |
| NM_014795.4:c.1880T>G MANE Select | NP_055610.1:p.Val627Gly | |
| NM_001171653.2:c.1808T>G | NP_001165124.1:p.Val603Gly |