Linked Data
ClinVar Variation Id:
392604
dbSNP Id:
rs200491758
ExAC:
2:73677788 T / C
gnomAD v2:
2-73677788-T-C
gnomAD v3:
2-73450661-T-C
gnomAD v4:
2-73450661-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73450661T>C , CM000664.2:g.73450661T>C | GRCh38 |
| NC_000002.11:g.73677788T>C , CM000664.1:g.73677788T>C | GRCh37 |
| NC_000002.10:g.73531296T>C | NCBI36 |
| NG_011690.1:g.69909T>C , LRG_741:g.69909T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.3753T>C | ENSP00000507671.1:p.Ser1251= | |
| ENST00000682801.1:c.3753T>C | ENSP00000507862.1:p.Ser1251= | |
| ENST00000682859.1:c.3753T>C | ENSP00000508222.1:p.Ser1251= | |
| ENST00000683791.1:c.685+18370T>C | ||
| ENST00000684460.1:c.1205T>C | ||
| ENST00000684548.1:c.3753T>C | ENSP00000507421.1:p.Ser1251= | |
| ENST00000684656.1:c.1205T>C | ||
| ENST00000613296.6:c.4134T>C MANE Select | ENSP00000482968.1:p.Ser1378= | |
| ENST00000484298.5:c.4008T>C | ENSP00000478155.1:p.Ser1336= | |
| ENST00000613296.4:c.4134T>C | ENSP00000482968.1:p.Ser1378= | |
| ENST00000614410.4:c.4134T>C | ENSP00000479094.1:p.Ser1378= | |
| NM_015120.4:c.4137T>C , LRG_741t1:c.4137T>C | NP_055935.4:p.Ser1379= | |
| NM_001378454.1:c.4134T>C MANE Select | NP_001365383.1:p.Ser1378= |