Linked Data
ClinVar Variation Id:
198146
dbSNP Id:
rs144681826
ExAC:
11:68682411 C / G
gnomAD v2:
11-68682411-C-G
gnomAD v3:
11-68914943-C-G
gnomAD v4:
11-68914943-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914943C>G , CM000673.2:g.68914943C>G | GRCh38 |
| NC_000011.9:g.68682411C>G , CM000673.1:g.68682411C>G | GRCh37 |
| NC_000011.8:g.68438987C>G | NCBI36 |
| NG_007976.1:g.16093C>G , LRG_250:g.16093C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.832C>G MANE Select | ENSP00000255078.4:p.His278Asp | |
| ENST00000539224.2:c.961C>G | ||
| ENST00000674955.1:c.832C>G | ENSP00000502463.1:p.His278Asp | |
| ENST00000675118.1:c.179C>G | ||
| ENST00000675119.1:c.121C>G | ENSP00000501861.1:p.His41Asp | |
| ENST00000675305.1:c.121C>G | ENSP00000502365.1:p.His41Asp | |
| ENST00000675464.1:c.121C>G | ENSP00000502650.1:p.His41Asp | |
| ENST00000675615.1:c.832C>G | ENSP00000502413.1:p.His278Asp | |
| ENST00000675683.1:c.219C>G | ||
| ENST00000676173.1:n.876C>G | ||
| ENST00000676228.1:c.*155C>G | ENSP00000502375.1:n.*155C>G | |
| ENST00000676239.1:n.146C>G | ||
| ENST00000255078.7:c.832C>G | ENSP00000255078.3:p.His278Asp | |
| NM_002180.2:c.832C>G , LRG_250t1:c.832C>G | NP_002171.2:p.His278Asp | |
| XM_005273974.2:c.-180C>G | XP_005274031.1:n.-180C>G | |
| XM_005273976.1:c.832C>G | XP_005274033.1:p.His278Asp | |
| XR_247198.1:n.934C>G | ||
| XR_949903.1:n.934C>G | ||
| XM_005273976.2:c.832C>G | XP_005274033.1:p.His278Asp | |
| XM_017017669.2:c.-180C>G | XP_016873158.1:n.-180C>G | |
| XM_017017670.2:c.-180C>G | XP_016873159.1:n.-180C>G | |
| XM_017017671.2:c.832C>G | XP_016873160.1:p.His278Asp | |
| XR_949903.3:n.930C>G | ||
| NM_002180.3:c.832C>G MANE Select | NP_002171.2:p.His278Asp |