Linked Data
ClinVar Variation Id:
245804
dbSNP Id:
rs200215156
ExAC:
5:148418023 T / C
gnomAD v2:
5-148418023-T-C
gnomAD v3:
5-149038460-T-C
gnomAD v4:
5-149038460-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149038460T>C , CM000667.2:g.149038460T>C | GRCh38 |
| NC_000005.9:g.148418023T>C , CM000667.1:g.148418023T>C | GRCh37 |
| NC_000005.8:g.148398216T>C | NCBI36 |
| NG_007947.2:g.29715A>G , LRG_269:g.29715A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.726A>G | ||
| ENST00000515425.6:c.836A>G MANE Select | ENSP00000423660.1:p.Tyr279Cys | |
| ENST00000674655.1:c.98A>G | ENSP00000502840.1:p.Tyr33Cys | |
| ENST00000674983.1:c.*94A>G | ENSP00000502387.1:n.*94A>G | |
| ENST00000675793.1:c.836A>G | ENSP00000502039.1:p.Tyr279Cys | |
| ENST00000676056.1:c.*94A>G | ENSP00000501827.1:n.*94A>G | |
| ENST00000323829.9:c.*94A>G | ENSP00000313025.5:n.*94A>G | |
| ENST00000503071.1:n.303A>G | ||
| ENST00000504517.5:c.236A>G | ENSP00000421779.1:p.Tyr79Cys | |
| ENST00000504690.5:c.836A>G | ENSP00000425627.1:p.Tyr279Cys | |
| ENST00000511307.5:c.*616A>G | ENSP00000421420.1:n.*616A>G | |
| ENST00000512049.5:c.815A>G | ENSP00000421860.1:p.Tyr272Cys | |
| ENST00000513604.5:c.*94A>G | ENSP00000423111.1:n.*94A>G | |
| ENST00000515425.5:c.836A>G | ENSP00000423660.1:p.Tyr279Cys | |
| NM_024577.3:c.836A>G , LRG_269t1:c.836A>G | NP_078853.2:p.Tyr279Cys | |
| NM_024577.4:c.836A>G MANE Select | NP_078853.2:p.Tyr279Cys |