Linked Data
ClinVar Variation Id:
515763
dbSNP Id:
rs3213841
ExAC:
2:191077736 T / C
gnomAD v2:
2-191077736-T-C
gnomAD v3:
2-190213010-T-C
gnomAD v4:
2-190213010-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190213010T>C , CM000664.2:g.190213010T>C | GRCh38 |
| NC_000002.11:g.191077736T>C , CM000664.1:g.191077736T>C | GRCh37 |
| NC_000002.10:g.190785981T>C | NCBI36 |
| NG_017062.1:g.112036A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359678.10:c.957A>G MANE Select | ENSP00000352706.5:p.Ser319= | |
| ENST00000359678.9:c.957A>G | ENSP00000352706.5:p.Ser319= | |
| ENST00000392332.7:c.957A>G | ENSP00000376144.3:p.Ser319= | |
| ENST00000409820.2:c.297A>G | ENSP00000387098.2:p.Ser99= | |
| ENST00000410045.5:c.288A>G | ENSP00000386274.1:p.Ser96= | |
| ENST00000416732.5:c.210A>G | ENSP00000399263.1:p.Ser70= | |
| ENST00000486981.1:n.226A>G | ||
| ENST00000489147.1:n.3100A>G | ||
| ENST00000622246.4:c.939A>G | ENSP00000481055.1:p.Ser313= | |
| NM_014362.3:c.957A>G | NP_055177.2:p.Ser319= | |
| NM_198047.2:c.957A>G | NP_932164.1:p.Ser319= | |
| XM_011510953.1:c.957A>G | XP_011509255.1:p.Ser319= | |
| XM_011510954.1:c.459A>G | XP_011509256.1:p.Ser153= | |
| XR_922903.1:n.1201A>G | ||
| XM_011510953.2:c.957A>G | XP_011509255.1:p.Ser319= | |
| XR_922903.2:n.1020A>G | ||
| NM_014362.4:c.957A>G MANE Select | NP_055177.2:p.Ser319= | |
| NM_198047.3:c.957A>G | NP_932164.1:p.Ser319= |