Linked Data
ClinVar Variation Id:
8176
dbSNP Id:
rs121909298
ExAC:
5:156022010 T / G
gnomAD v2:
5-156022010-T-G
gnomAD v3:
5-156595000-T-G
gnomAD v4:
5-156595000-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156595000T>G , CM000667.2:g.156595000T>G | GRCh38 |
| NC_000005.9:g.156022010T>G , CM000667.1:g.156022010T>G | GRCh37 |
| NC_000005.8:g.155954588T>G | NCBI36 |
| NG_008693.2:g.729657T>G , LRG_205:g.729657T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337851.9:c.451T>G MANE Select | ENSP00000338343.4:p.Ser151Ala | |
| ENST00000337851.8:c.451T>G | ENSP00000338343.4:p.Ser151Ala | |
| ENST00000435422.7:c.448T>G | ENSP00000403003.2:p.Ser150Ala | |
| ENST00000517913.5:c.451T>G | ENSP00000429378.1:p.Ser151Ala | |
| NM_000337.5:c.451T>G , LRG_205t1:c.451T>G | NP_000328.2:p.Ser151Ala | |
| NM_001128209.1:c.448T>G | NP_001121681.1:p.Ser150Ala | |
| NM_172244.2:c.451T>G | NP_758447.1:p.Ser151Ala | |
| XM_005265966.3:c.451T>G | XP_005266023.1:p.Ser151Ala | |
| XM_005265967.1:c.451T>G | XP_005266024.1:p.Ser151Ala | |
| XM_006714911.2:c.451T>G | XP_006714974.1:p.Ser151Ala | |
| XM_011534621.1:c.448T>G | XP_011532923.1:p.Ser150Ala | |
| XM_005265966.5:c.451T>G | XP_005266023.1:p.Ser151Ala | |
| XM_005265967.2:c.451T>G | XP_005266024.1:p.Ser151Ala | |
| XM_011534621.2:c.448T>G | XP_011532923.1:p.Ser150Ala | |
| XM_017009723.2:c.451T>G | XP_016865212.1:p.Ser151Ala | |
| XM_017009724.1:c.451T>G | XP_016865213.1:p.Ser151Ala | |
| NM_001128209.2:c.448T>G | NP_001121681.1:p.Ser150Ala | |
| NM_172244.3:c.451T>G | NP_758447.1:p.Ser151Ala | |
| NM_000337.6:c.451T>G MANE Select | NP_000328.2:p.Ser151Ala |