Linked Data
ClinVar Variation Id:
1479881
dbSNP Id:
rs746126446
ExAC:
2:73799742 C / G
gnomAD v2:
2-73799742-C-G
gnomAD v3:
2-73572615-C-G
gnomAD v4:
2-73572615-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572615C>G , CM000664.2:g.73572615C>G | GRCh38 |
| NC_000002.11:g.73799742C>G , CM000664.1:g.73799742C>G | GRCh37 |
| NC_000002.10:g.73653250C>G | NCBI36 |
| NG_011690.1:g.191863C>G , LRG_741:g.191863C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10357C>G | ENSP00000507671.1:p.Pro3453Ala | |
| ENST00000682801.1:c.10357C>G | ENSP00000507862.1:p.Pro3453Ala | |
| ENST00000682859.1:c.10357C>G | ENSP00000508222.1:p.Pro3453Ala | |
| ENST00000683791.1:c.3443C>G | ||
| ENST00000684460.1:c.7638C>G | ||
| ENST00000684548.1:c.10357C>G | ENSP00000507421.1:p.Pro3453Ala | |
| ENST00000684590.1:c.4804C>G | ENSP00000507376.1:p.Pro1602Ala | |
| ENST00000684656.1:c.7683C>G | ||
| ENST00000613296.6:c.10738C>G MANE Select | ENSP00000482968.1:p.Pro3580Ala | |
| ENST00000651057.1:c.892C>G | ENSP00000498504.1:p.Pro298Ala | |
| ENST00000651434.1:c.2094C>G | ||
| ENST00000651750.1:c.126C>G | ||
| ENST00000652487.1:c.1835C>G | ||
| ENST00000423048.5:c.4229C>G | ENSP00000399833.1:n.4229C>G | |
| ENST00000484298.5:c.10612C>G | ENSP00000478155.1:p.Pro3538Ala | |
| ENST00000613296.4:c.10738C>G | ENSP00000482968.1:p.Pro3580Ala | |
| ENST00000614410.4:c.10738C>G | ENSP00000479094.1:p.Pro3580Ala | |
| ENST00000620466.4:n.4541C>G | ||
| NM_015120.4:c.10741C>G , LRG_741t1:c.10741C>G | NP_055935.4:p.Pro3581Ala | |
| NM_001378454.1:c.10738C>G MANE Select | NP_001365383.1:p.Pro3580Ala |