Linked Data
dbSNP Id:
rs368481276
ExAC:
5:135382087 A / G
gnomAD v2:
5-135382087-A-G
gnomAD v3:
5-136046398-A-G
gnomAD v4:
5-136046398-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046398A>G , CM000667.2:g.136046398A>G | GRCh38 |
| NC_000005.9:g.135382087A>G , CM000667.1:g.135382087A>G | GRCh37 |
| NC_000005.8:g.135409986A>G | NCBI36 |
| NG_012646.1:g.22504A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.362A>G MANE Select | ENSP00000416330.2:p.Tyr121Cys | |
| ENST00000442011.6:c.362A>G | ENSP00000416330.2:p.Tyr121Cys | |
| ENST00000504185.5:n.519A>G | ||
| ENST00000506699.5:n.427A>G | ||
| ENST00000507018.5:c.279A>G | ||
| ENST00000515433.1:n.654A>G | ||
| NM_000358.2:c.362A>G | NP_000349.1:p.Tyr121Cys | |
| NM_000358.3:c.362A>G MANE Select | NP_000349.1:p.Tyr121Cys |