Linked Data
ClinVar Variation Id:
363145
dbSNP Id:
rs757385876
ExAC:
8:43037355 T / G
gnomAD v2:
8-43037355-T-G
gnomAD v4:
8-43182212-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43182212T>G , CM000670.2:g.43182212T>G | GRCh38 |
| NC_000008.10:g.43037355T>G , CM000670.1:g.43037355T>G | GRCh37 |
| NC_000008.9:g.43156512T>G | NCBI36 |
| NG_009552.1:g.46764T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1080T>G MANE Select | ENSP00000368965.4:p.Ala360= | |
| ENST00000379644.8:c.1080T>G | ENSP00000368965.4:p.Ala360= | |
| ENST00000519000.1:n.566T>G | ||
| ENST00000520678.1:n.13T>G | ||
| ENST00000521576.1:c.231T>G | ENSP00000429029.1:p.Ala77= | |
| ENST00000522082.5:c.321T>G | ENSP00000430151.1:p.Ala107= | |
| ENST00000524016.5:c.184T>G | ||
| NM_152419.2:c.1080T>G | NP_689632.2:p.Ala360= | |
| XM_005273409.1:c.1080T>G | XP_005273466.1:p.Ala360= | |
| XM_005273410.1:c.1080T>G | XP_005273467.1:p.Ala360= | |
| XM_005273411.1:c.888T>G | XP_005273468.1:p.Ala296= | |
| XM_005273412.2:c.1080T>G | XP_005273469.1:p.Ala360= | |
| NM_001363227.1:c.1080T>G | NP_001350156.1:p.Ala360= | |
| NM_001363228.1:c.888T>G | NP_001350157.1:p.Ala296= | |
| NM_001363229.1:c.216T>G | NP_001350158.1:p.Ala72= | |
| XM_005273412.4:c.1080T>G | XP_005273469.1:p.Ala360= | |
| NM_152419.3:c.1080T>G MANE Select | NP_689632.2:p.Ala360= | |
| NM_001363227.2:c.1080T>G | NP_001350156.1:p.Ala360= | |
| NM_001363228.2:c.888T>G | NP_001350157.1:p.Ala296= | |
| NM_001363229.2:c.216T>G | NP_001350158.1:p.Ala72= |