Linked Data
dbSNP Id:
rs554282866
ExAC:
7:107557850 T / G
gnomAD v2:
7-107557850-T-G
gnomAD v3:
7-107917405-T-G
gnomAD v4:
7-107917405-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107917405T>G , CM000669.2:g.107917405T>G | GRCh38 |
| NC_000007.13:g.107557850T>G , CM000669.1:g.107557850T>G | GRCh37 |
| NC_000007.12:g.107345086T>G | NCBI36 |
| NG_008045.1:g.31265T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1179T>G MANE Select | ENSP00000205402.3:p.Ile393Met | |
| ENST00000205402.9:c.1179T>G | ENSP00000205402.3:p.Ile393Met | |
| ENST00000415325.5:c.*853T>G | ENSP00000402593.1:n.*853T>G | |
| ENST00000417551.5:c.1179T>G | ENSP00000390667.1:p.Ile393Met | |
| ENST00000437604.6:c.1035T>G | ENSP00000387542.2:p.Ile345Met | |
| ENST00000440410.5:c.1110T>G | ENSP00000417016.1:p.Ile370Met | |
| NM_000108.4:c.1179T>G | NP_000099.2:p.Ile393Met | |
| NM_001289750.1:c.882T>G | NP_001276679.1:p.Ile294Met | |
| NM_001289751.1:c.1110T>G | NP_001276680.1:p.Ile370Met | |
| NM_001289752.1:c.1035T>G | NP_001276681.1:p.Ile345Met | |
| NM_000108.5:c.1179T>G MANE Select | NP_000099.2:p.Ile393Met |