Linked Data
dbSNP Id:
rs758845294
ExAC:
10:115348008 C / G
gnomAD v2:
10-115348008-C-G
gnomAD v3:
10-113588249-C-G
gnomAD v4:
10-113588249-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588249C>G , CM000672.2:g.113588249C>G | GRCh38 |
| NC_000010.10:g.115348008C>G , CM000672.1:g.115348008C>G | GRCh37 |
| NC_000010.9:g.115337998C>G | NCBI36 |
| NG_008956.1:g.40231C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.1563C>G MANE Select | ENSP00000277903.4:p.Tyr521Ter | |
| ENST00000351270.3:c.1563C>G | ENSP00000277903.4:p.Tyr521Ter | |
| ENST00000542051.5:c.1485C>G | ENSP00000443283.1:p.Tyr495Ter | |
| NM_001177660.1:c.1485C>G | NP_001171131.1:p.Tyr495Ter | |
| NM_004132.3:c.1563C>G | NP_004123.1:p.Tyr521Ter | |
| NM_001177660.2:c.1485C>G | NP_001171131.1:p.Tyr495Ter | |
| NM_004132.4:c.1563C>G | NP_004123.1:p.Tyr521Ter | |
| NM_004132.5:c.1563C>G MANE Select | NP_004123.1:p.Tyr521Ter | |
| NM_001177660.3:c.1485C>G | NP_001171131.1:p.Tyr495Ter |