Linked Data
ClinVar Variation Id:
2868088
ClinVar RCV Id:
RCV003623922
dbSNP Id:
rs768703850
gnomAD v2:
7-107557745-T-C
gnomAD v3:
7-107917300-T-C
gnomAD v4:
7-107917300-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107917300T>C , CM000669.2:g.107917300T>C | GRCh38 |
| NC_000007.13:g.107557745T>C , CM000669.1:g.107557745T>C | GRCh37 |
| NC_000007.12:g.107344981T>C | NCBI36 |
| NG_008045.1:g.31160T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1074T>C MANE Select | ENSP00000205402.3:p.Ala358= | |
| ENST00000205402.9:c.1074T>C | ENSP00000205402.3:p.Ala358= | |
| ENST00000415325.5:c.*748T>C | ENSP00000402593.1:n.*748T>C | |
| ENST00000417551.5:c.1074T>C | ENSP00000390667.1:p.Ala358= | |
| ENST00000437604.6:c.930T>C | ENSP00000387542.2:p.Ala310= | |
| ENST00000440410.5:c.1005T>C | ENSP00000417016.1:p.Ala335= | |
| NM_000108.4:c.1074T>C | NP_000099.2:p.Ala358= | |
| NM_001289750.1:c.777T>C | NP_001276679.1:p.Ala259= | |
| NM_001289751.1:c.1005T>C | NP_001276680.1:p.Ala335= | |
| NM_001289752.1:c.930T>C | NP_001276681.1:p.Ala310= | |
| NM_000108.5:c.1074T>C MANE Select | NP_000099.2:p.Ala358= |