Linked Data
dbSNP Id:
rs1027719796
gnomAD v2:
16-5078972-G-C
gnomAD v3:
16-5028971-G-C
gnomAD v4:
16-5028971-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5028971G>C , CM000678.2:g.5028971G>C | GRCh38 |
| NC_000016.9:g.5078972G>C , CM000678.1:g.5078972G>C | GRCh37 |
| NC_000016.8:g.5018973G>C | NCBI36 |
| NG_028152.1:g.9971C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.829C>G MANE Select | ENSP00000310998.3:p.Gln277Glu | |
| ENST00000649828.1:c.829C>G | ENSP00000498032.1:p.Gln277Glu | |
| ENST00000312251.7:c.829C>G | ENSP00000310998.3:p.Gln277Glu | |
| ENST00000381955.7:c.829C>G | ENSP00000371381.3:p.Gln277Glu | |
| ENST00000562037.1:c.590C>G | ENSP00000464994.1:n.590C>G | |
| ENST00000562346.2:c.505-786C>G | ||
| ENST00000562746.5:c.829C>G | ENSP00000455900.1:p.Gln277Glu | |
| ENST00000563578.5:c.647C>G | ||
| ENST00000564397.5:n.1188C>G | ||
| ENST00000565876.5:c.480+1414C>G | ||
| ENST00000567739.5:n.148C>G | ||
| ENST00000568202.5:n.692C>G | ||
| ENST00000569296.5:c.373C>G | ENSP00000465949.1:p.Gln125Glu | |
| NM_016256.3:c.829C>G | NP_057340.2:p.Gln277Glu | |
| XM_011522517.1:c.829C>G | XP_011520819.1:p.Gln277Glu | |
| XM_011522518.1:c.829C>G | XP_011520820.1:p.Gln277Glu | |
| XM_011522519.1:c.829C>G | XP_011520821.1:p.Gln277Glu | |
| XR_243285.1:n.856C>G | ||
| XM_011522517.3:c.829C>G | XP_011520819.1:p.Gln277Glu | |
| XR_001751908.2:n.855C>G | ||
| XR_001751909.2:n.855C>G | ||
| XR_001751910.2:n.855C>G | ||
| XR_001751911.2:n.855C>G | ||
| XR_001751912.2:n.855C>G | ||
| NM_016256.4:c.829C>G MANE Select | NP_057340.2:p.Gln277Glu |