Linked Data
ClinVar Variation Id:
242507
dbSNP Id:
rs564759960
ExAC:
8:87645107 T / C
gnomAD v2:
8-87645107-T-C
gnomAD v3:
8-86632879-T-C
gnomAD v4:
8-86632879-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632879T>C , CM000670.2:g.86632879T>C | GRCh38 |
| NC_000008.10:g.87645107T>C , CM000670.1:g.87645107T>C | GRCh37 |
| NC_000008.9:g.87714223T>C | NCBI36 |
| NG_016980.1:g.115797A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1193A>G MANE Select | ENSP00000316605.5:p.Tyr398Cys | |
| ENST00000681546.1:n.1013A>G | ||
| ENST00000681746.1:c.1193A>G | ENSP00000505959.1:p.Tyr398Cys | |
| ENST00000320005.5:c.1193A>G | ENSP00000316605.5:p.Tyr398Cys | |
| NM_019098.4:c.1193A>G | NP_061971.3:p.Tyr398Cys | |
| XM_011517138.1:c.779A>G | XP_011515440.1:p.Tyr260Cys | |
| XM_011517138.2:c.779A>G | XP_011515440.1:p.Tyr260Cys | |
| NM_019098.5:c.1193A>G MANE Select | NP_061971.3:p.Tyr398Cys |