Linked Data
dbSNP Id:
rs1234365846
gnomAD v2:
11-76925811-C-G
gnomAD v3:
11-77214766-C-G
gnomAD v4:
11-77214766-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77214766C>G , CM000673.2:g.77214766C>G | GRCh38 |
| NC_000011.9:g.76925811C>G , CM000673.1:g.76925811C>G | GRCh37 |
| NC_000011.8:g.76603459C>G | NCBI36 |
| NG_009086.1:g.91502C>G | |
| NG_009086.2:g.91521C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.*70C>G MANE Select | ENSP00000386331.3:n.*70C>G | |
| ENST00000670577.1:c.4519C>G | ||
| ENST00000409619.6:c.*70C>G | ENSP00000386635.2:n.*70C>G | |
| ENST00000409709.7:c.*70C>G | ENSP00000386331.3:n.*70C>G | |
| ENST00000458169.2:c.4144C>G | ENSP00000417017.2:n.4144C>G | |
| ENST00000458637.6:c.*70C>G | ENSP00000392185.2:n.*70C>G | |
| ENST00000481328.7:n.5268C>G | ||
| ENST00000605744.1:n.2232C>G | ||
| NM_000260.3:c.*70C>G | NP_000251.3:n.*70C>G | |
| NM_001127180.1:c.*70C>G | NP_001120652.1:n.*70C>G | |
| XM_005274012.2:c.*70C>G | XP_005274069.1:n.*70C>G | |
| XM_006718561.2:c.*70C>G | XP_006718624.1:n.*70C>G | |
| XR_949941.1:n.7012C>G | ||
| XM_017017780.1:c.*70C>G | XP_016873269.1:n.*70C>G | |
| XM_017017784.1:c.*70C>G | XP_016873273.1:n.*70C>G | |
| XM_017017788.1:c.*70C>G | XP_016873277.1:n.*70C>G | |
| XR_001747885.1:n.6797C>G | ||
| XR_001747887.1:n.6783C>G | ||
| NM_000260.4:c.*70C>G MANE Select | NP_000251.3:n.*70C>G | |
| NM_001127180.2:c.*70C>G | NP_001120652.1:n.*70C>G | |
| NM_001369365.1:c.*70C>G | NP_001356294.1:n.*70C>G |