Linked Data
ClinVar Variation Id:
1677439
dbSNP Id:
rs773399107
ExAC:
1:173878863 A / G
gnomAD v2:
1-173878863-A-G
gnomAD v3:
1-173909725-A-G
gnomAD v4:
1-173909725-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909725A>G , CM000663.2:g.173909725A>G | GRCh38 |
| NC_000001.10:g.173878863A>G , CM000663.1:g.173878863A>G | GRCh37 |
| NC_000001.9:g.172145486A>G | NCBI36 |
| NG_012462.1:g.12654T>C , LRG_577:g.12654T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.980T>C MANE Select | ENSP00000356671.3:p.Val327Ala | |
| ENST00000367698.3:c.980T>C | ENSP00000356671.3:p.Val327Ala | |
| ENST00000617423.4:c.559+2139T>C | ENSP00000478688.1:n.559+2139T>C | |
| NM_000488.3:c.980T>C , LRG_577t1:c.980T>C | NP_000479.1:p.Val327Ala | |
| XM_005245198.2:c.836T>C | XP_005245255.1:p.Val279Ala | |
| NM_001365052.1:c.836T>C | NP_001351981.1:p.Val279Ala | |
| NM_000488.4:c.980T>C MANE Select | NP_000479.1:p.Val327Ala | |
| NM_001365052.2:c.836T>C | NP_001351981.1:p.Val279Ala | |
| NM_001386302.1:c.1103T>C | NP_001373231.1:p.Val368Ala | |
| NM_001386303.1:c.1061T>C | NP_001373232.1:p.Val354Ala | |
| NM_001386304.1:c.959T>C | NP_001373233.1:p.Val320Ala | |
| NM_001386305.1:c.923T>C | NP_001373234.1:p.Val308Ala | |
| NM_001386306.1:c.764T>C | NP_001373235.1:p.Val255Ala |