Linked Data
ClinVar Variation Id:
137952
dbSNP Id:
rs185223937
ExAC:
2:145155988 T / A
gnomAD v2:
2-145155988-T-A
gnomAD v3:
2-144398421-T-A
gnomAD v4:
2-144398421-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398421T>A , CM000664.2:g.144398421T>A | GRCh38 |
| NC_000002.11:g.145155988T>A , CM000664.1:g.145155988T>A | GRCh37 |
| NC_000002.10:g.144872458T>A | NCBI36 |
| NG_016431.1:g.126971A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2615A>T | ENSP00000508434.1:n.*2615A>T | |
| ENST00000440875.6:c.1989A>T | ENSP00000475553.3:p.Pro663= | |
| ENST00000627532.3:c.2766A>T MANE Select | ENSP00000487174.1:p.Pro922= | |
| ENST00000636026.2:c.2766A>T | ENSP00000490776.1:p.Pro922= | |
| ENST00000636179.1:n.2735A>T | ||
| ENST00000636413.1:c.2430A>T | ENSP00000490508.1:p.Pro810= | |
| ENST00000636471.1:c.2841A>T | ENSP00000490317.1:p.Pro947= | |
| ENST00000636732.2:c.*2483A>T | ENSP00000490175.1:n.*2483A>T | |
| ENST00000636820.1:n.2866A>T | ||
| ENST00000637045.1:c.2430A>T | ENSP00000490141.1:p.Pro810= | |
| ENST00000637304.1:c.2430A>T | ENSP00000490872.1:p.Pro810= | |
| ENST00000638007.1:c.2430A>T | ENSP00000490723.1:p.Pro810= | |
| ENST00000638087.1:c.2430A>T | ENSP00000490673.1:p.Pro810= | |
| ENST00000638128.1:c.1989A>T | ENSP00000490934.1:p.Pro663= | |
| ENST00000675069.1:c.297A>T | ENSP00000502467.1:p.Pro99= | |
| ENST00000303660.8:c.2763A>T | ENSP00000302501.4:p.Pro921= | |
| ENST00000409487.7:c.2766A>T | ENSP00000386854.2:p.Pro922= | |
| ENST00000419938.5:c.655+2778A>T | ENSP00000394777.2:n.655+2778A>T | |
| ENST00000440875.5:c.1168-493A>T | ENSP00000475553.2:n.1168-493A>T | |
| ENST00000539609.7:c.2694A>T | ENSP00000443792.2:p.Pro898= | |
| ENST00000558170.6:c.2766A>T | ENSP00000454157.1:p.Pro922= | |
| ENST00000627532.2:c.2766A>T | ENSP00000487174.1:p.Pro922= | |
| NM_001171653.1:c.2694A>T | NP_001165124.1:p.Pro898= | |
| NM_014795.3:c.2766A>T | NP_055610.1:p.Pro922= | |
| XM_006712881.2:c.2766A>T | XP_006712944.1:p.Pro922= | |
| XM_006712882.2:c.2766A>T | XP_006712945.1:p.Pro922= | |
| XM_011512231.1:c.2757A>T | XP_011510533.1:p.Pro919= | |
| XM_011512232.1:c.2745A>T | XP_011510534.1:p.Pro915= | |
| NM_014795.4:c.2766A>T MANE Select | NP_055610.1:p.Pro922= | |
| NM_001171653.2:c.2694A>T | NP_001165124.1:p.Pro898= |