Linked Data
dbSNP Id:
rs5020278
ExAC:
19:9325116 G / C
gnomAD v2:
19-9325116-G-C
gnomAD v3:
19-9214440-G-C
gnomAD v4:
19-9214440-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214440G>C , CM000681.2:g.9214440G>C | GRCh38 |
| NC_000019.9:g.9325116G>C , CM000681.1:g.9325116G>C | GRCh37 |
| NC_000019.8:g.9186116G>C | NCBI36 |
| NG_027953.1:g.5432C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641244.1:c.398C>G | ENSP00000493404.1:p.Thr133Arg | |
| ENST00000641669.1:c.398C>G MANE Select | ENSP00000493383.1:p.Thr133Arg | |
| ENST00000308682.3:c.398C>G | ENSP00000310488.2:p.Thr133Arg | |
| NM_001005191.2:c.398C>G | NP_001005191.1:p.Thr133Arg | |
| NM_001005191.3:c.398C>G MANE Select | NP_001005191.1:p.Thr133Arg |