Linked Data
ClinVar Variation Id:
2690457
ClinVar RCV Id:
RCV003486291
dbSNP Id:
rs1157918568
gnomAD v2:
2-145156443-G-A
gnomAD v4:
2-144398876-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398876G>A , CM000664.2:g.144398876G>A | GRCh38 |
| NC_000002.11:g.145156443G>A , CM000664.1:g.145156443G>A | GRCh37 |
| NC_000002.10:g.144872913G>A | NCBI36 |
| NG_016431.1:g.126516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2160C>T | ENSP00000508434.1:n.*2160C>T | |
| ENST00000440875.6:c.1534C>T | ENSP00000475553.3:p.Pro512Ser | |
| ENST00000627532.3:c.2311C>T MANE Select | ENSP00000487174.1:p.Pro771Ser | |
| ENST00000636026.2:c.2311C>T | ENSP00000490776.1:p.Pro771Ser | |
| ENST00000636179.1:n.2280C>T | ||
| ENST00000636413.1:c.1975C>T | ENSP00000490508.1:p.Pro659Ser | |
| ENST00000636471.1:c.2386C>T | ENSP00000490317.1:p.Pro796Ser | |
| ENST00000636732.2:c.*2028C>T | ENSP00000490175.1:n.*2028C>T | |
| ENST00000636820.1:n.2411C>T | ||
| ENST00000637045.1:c.1975C>T | ENSP00000490141.1:p.Pro659Ser | |
| ENST00000637304.1:c.1975C>T | ENSP00000490872.1:p.Pro659Ser | |
| ENST00000638007.1:c.1975C>T | ENSP00000490723.1:p.Pro659Ser | |
| ENST00000638087.1:c.1975C>T | ENSP00000490673.1:p.Pro659Ser | |
| ENST00000638128.1:c.1534C>T | ENSP00000490934.1:p.Pro512Ser | |
| ENST00000675069.1:c.-133-26C>T | ENSP00000502467.1:n.-133-26C>T | |
| ENST00000675145.1:n.2859C>T | ||
| ENST00000303660.8:c.2308C>T | ENSP00000302501.4:p.Pro770Ser | |
| ENST00000409487.7:c.2311C>T | ENSP00000386854.2:p.Pro771Ser | |
| ENST00000419938.5:c.655+2323C>T | ENSP00000394777.2:n.655+2323C>T | |
| ENST00000440875.5:c.1167+661C>T | ENSP00000475553.2:n.1167+661C>T | |
| ENST00000539609.7:c.2239C>T | ENSP00000443792.2:p.Pro747Ser | |
| ENST00000558170.6:c.2311C>T | ENSP00000454157.1:p.Pro771Ser | |
| ENST00000627532.2:c.2311C>T | ENSP00000487174.1:p.Pro771Ser | |
| NM_001171653.1:c.2239C>T | NP_001165124.1:p.Pro747Ser | |
| NM_014795.3:c.2311C>T | NP_055610.1:p.Pro771Ser | |
| XM_006712881.2:c.2311C>T | XP_006712944.1:p.Pro771Ser | |
| XM_006712882.2:c.2311C>T | XP_006712945.1:p.Pro771Ser | |
| XM_011512231.1:c.2302C>T | XP_011510533.1:p.Pro768Ser | |
| XM_011512232.1:c.2290C>T | XP_011510534.1:p.Pro764Ser | |
| NM_014795.4:c.2311C>T MANE Select | NP_055610.1:p.Pro771Ser | |
| NM_001171653.2:c.2239C>T | NP_001165124.1:p.Pro747Ser |