Linked Data
dbSNP Id:
rs1234150276
gnomAD v2:
16-5078945-C-G
gnomAD v4:
16-5028944-C-G
COSMIC:
COSM6144896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5028944C>G , CM000678.2:g.5028944C>G | GRCh38 |
| NC_000016.9:g.5078945C>G , CM000678.1:g.5078945C>G | GRCh37 |
| NC_000016.8:g.5018946C>G | NCBI36 |
| NG_028152.1:g.9998G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.856G>C MANE Select | ENSP00000310998.3:p.Asp286His | |
| ENST00000649828.1:c.856G>C | ENSP00000498032.1:p.Asp286His | |
| ENST00000312251.7:c.856G>C | ENSP00000310998.3:p.Asp286His | |
| ENST00000381955.7:c.856G>C | ENSP00000371381.3:p.Asp286His | |
| ENST00000562346.2:c.505-759G>C | ||
| ENST00000562746.5:c.856G>C | ENSP00000455900.1:p.Asp286His | |
| ENST00000563578.5:c.674G>C | ||
| ENST00000564397.5:n.1215G>C | ||
| ENST00000565876.5:c.480+1441G>C | ||
| ENST00000567739.5:n.175G>C | ||
| ENST00000568202.5:n.719G>C | ||
| ENST00000569296.5:c.400G>C | ENSP00000465949.1:p.Asp134His | |
| NM_016256.3:c.856G>C | NP_057340.2:p.Asp286His | |
| XM_011522517.1:c.856G>C | XP_011520819.1:p.Asp286His | |
| XM_011522518.1:c.856G>C | XP_011520820.1:p.Asp286His | |
| XM_011522519.1:c.856G>C | XP_011520821.1:p.Asp286His | |
| XR_243285.1:n.883G>C | ||
| XM_011522517.3:c.856G>C | XP_011520819.1:p.Asp286His | |
| XR_001751908.2:n.882G>C | ||
| XR_001751909.2:n.882G>C | ||
| XR_001751910.2:n.882G>C | ||
| XR_001751911.2:n.882G>C | ||
| XR_001751912.2:n.882G>C | ||
| NM_016256.4:c.856G>C MANE Select | NP_057340.2:p.Asp286His |