Linked Data
ClinVar Variation Id:
498391
dbSNP Id:
rs753952200
ExAC:
5:156074487 A / G
gnomAD v2:
5-156074487-A-G
gnomAD v3:
5-156647477-A-G
gnomAD v4:
5-156647477-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156647477A>G , CM000667.2:g.156647477A>G | GRCh38 |
| NC_000005.9:g.156074487A>G , CM000667.1:g.156074487A>G | GRCh37 |
| NC_000005.8:g.156007065A>G | NCBI36 |
| NG_008693.2:g.782134A>G , LRG_205:g.782134A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.516A>G MANE Select | ENSP00000338343.4:p.Thr172= | |
| ENST00000337851.8:c.516A>G | ENSP00000338343.4:p.Thr172= | |
| ENST00000435422.7:c.513A>G | ENSP00000403003.2:p.Thr171= | |
| ENST00000517913.5:c.516A>G | ENSP00000429378.1:p.Thr172= | |
| NM_000337.5:c.516A>G , LRG_205t1:c.516A>G | NP_000328.2:p.Thr172= | |
| NM_001128209.1:c.513A>G | NP_001121681.1:p.Thr171= | |
| NM_172244.2:c.516A>G | NP_758447.1:p.Thr172= | |
| XM_005265966.3:c.516A>G | XP_005266023.1:p.Thr172= | |
| XM_005265967.1:c.502+52426A>G | XP_005266024.1:n.502+52426A>G | |
| XM_006714911.2:c.516A>G | XP_006714974.1:p.Thr172= | |
| XM_011534621.1:c.513A>G | XP_011532923.1:p.Thr171= | |
| XM_005265966.5:c.516A>G | XP_005266023.1:p.Thr172= | |
| XM_005265967.2:c.502+52426A>G | XP_005266024.1:n.502+52426A>G | |
| XM_011534621.2:c.513A>G | XP_011532923.1:p.Thr171= | |
| XM_017009723.2:c.516A>G | XP_016865212.1:p.Thr172= | |
| XM_017009724.1:c.516A>G | XP_016865213.1:p.Thr172= | |
| NM_001128209.2:c.513A>G | NP_001121681.1:p.Thr171= | |
| NM_172244.3:c.516A>G | NP_758447.1:p.Thr172= | |
| NM_000337.6:c.516A>G MANE Select | NP_000328.2:p.Thr172= |