Linked Data
dbSNP Id:
rs750787549
ExAC:
5:149357833 T / G
gnomAD v2:
5-149357833-T-G
gnomAD v4:
5-149978270-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978270T>G , CM000667.2:g.149978270T>G | GRCh38 |
| NC_000005.9:g.149357833T>G , CM000667.1:g.149357833T>G | GRCh37 |
| NC_000005.8:g.149338026T>G | NCBI36 |
| NG_007147.2:g.19388T>G , LRG_684:g.19388T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.850T>G | ||
| ENST00000286298.5:c.618T>G MANE Select | ENSP00000286298.4:p.His206Gln | |
| ENST00000286298.4:c.618T>G | ENSP00000286298.4:p.His206Gln | |
| ENST00000503336.1:c.291T>G | ENSP00000426053.1:p.His97Gln | |
| NM_000112.3:c.618T>G , LRG_684t1:c.618T>G | NP_000103.2:p.His206Gln | |
| XM_017009191.2:c.618T>G | XP_016864680.1:p.His206Gln | |
| NM_000112.4:c.618T>G MANE Select | NP_000103.2:p.His206Gln |