Linked Data
dbSNP Id:
rs776201634
ExAC:
8:87680349 T / C
gnomAD v2:
8-87680349-T-C
gnomAD v3:
8-86668121-T-C
gnomAD v4:
8-86668121-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668121T>C , CM000670.2:g.86668121T>C | GRCh38 |
| NC_000008.10:g.87680349T>C , CM000670.1:g.87680349T>C | GRCh37 |
| NC_000008.9:g.87749465T>C | NCBI36 |
| NG_016980.1:g.80555A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.541A>G MANE Select | ENSP00000316605.5:p.Thr181Ala | |
| ENST00000681746.1:c.541A>G | ENSP00000505959.1:p.Thr181Ala | |
| ENST00000320005.5:c.541A>G | ENSP00000316605.5:p.Thr181Ala | |
| NM_019098.4:c.541A>G | NP_061971.3:p.Thr181Ala | |
| XM_011517138.1:c.127A>G | XP_011515440.1:p.Thr43Ala | |
| XM_011517138.2:c.127A>G | XP_011515440.1:p.Thr43Ala | |
| NM_019098.5:c.541A>G MANE Select | NP_061971.3:p.Thr181Ala |