Linked Data
dbSNP Id:
rs1403881765
gnomAD v2:
10-115348019-G-T
gnomAD v3:
10-113588260-G-T
gnomAD v4:
10-113588260-G-T
COSMIC:
COSM5689699
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588260G>T , CM000672.2:g.113588260G>T | GRCh38 |
| NC_000010.10:g.115348019G>T , CM000672.1:g.115348019G>T | GRCh37 |
| NC_000010.9:g.115338009G>T | NCBI36 |
| NG_008956.1:g.40242G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.1574G>T MANE Select | ENSP00000277903.4:p.Gly525Val | |
| ENST00000351270.3:c.1574G>T | ENSP00000277903.4:p.Gly525Val | |
| ENST00000542051.5:c.1496G>T | ENSP00000443283.1:p.Gly499Val | |
| NM_001177660.1:c.1496G>T | NP_001171131.1:p.Gly499Val | |
| NM_004132.3:c.1574G>T | NP_004123.1:p.Gly525Val | |
| NM_001177660.2:c.1496G>T | NP_001171131.1:p.Gly499Val | |
| NM_004132.4:c.1574G>T | NP_004123.1:p.Gly525Val | |
| NM_004132.5:c.1574G>T MANE Select | NP_004123.1:p.Gly525Val | |
| NM_001177660.3:c.1496G>T | NP_001171131.1:p.Gly499Val |