Linked Data
ClinVar Variation Id:
218765
dbSNP Id:
rs201741828
ExAC:
1:240370952 C / T
gnomAD v2:
1-240370952-C-T
gnomAD v3:
1-240207652-C-T
gnomAD v4:
1-240207652-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240207652C>T , CM000663.2:g.240207652C>T | GRCh38 |
| NC_000001.10:g.240370952C>T , CM000663.1:g.240370952C>T | GRCh37 |
| NC_000001.9:g.238437575C>T | NCBI36 |
| NG_042054.1:g.120768C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319653.14:c.2840C>T MANE Select | ENSP00000318884.9:p.Pro947Leu | |
| ENST00000545751.3:c.56+19390C>T | ||
| ENST00000679980.1:c.189+660C>T | ||
| ENST00000681210.1:c.285+19390C>T | ENSP00000505131.1:n.285+19390C>T | |
| ENST00000681741.1:c.286-3439C>T | ENSP00000505116.1:n.286-3439C>T | |
| ENST00000681824.1:c.285+19390C>T | ENSP00000505818.1:n.285+19390C>T | |
| ENST00000319653.13:c.2840C>T | ENSP00000318884.9:p.Pro947Leu | |
| NM_001305424.1:c.2852C>T | NP_001292353.1:p.Pro951Leu | |
| NM_020066.4:c.2840C>T | NP_064450.3:p.Pro947Leu | |
| XM_011544237.1:c.2852C>T | XP_011542539.1:p.Pro951Leu | |
| XR_949151.1:n.3073C>T | ||
| NM_001348094.1:c.1986+19390C>T | NP_001335023.1:n.1986+19390C>T | |
| XM_011544237.3:c.2852C>T | XP_011542539.1:p.Pro951Leu | |
| XM_017001837.1:c.2852C>T | XP_016857326.1:p.Pro951Leu | |
| XM_017001838.1:c.2852C>T | XP_016857327.1:p.Pro951Leu | |
| XM_017001840.2:c.980C>T | XP_016857329.1:p.Pro327Leu | |
| XM_017001841.2:c.980C>T | XP_016857330.1:p.Pro327Leu | |
| NM_020066.5:c.2840C>T MANE Select | NP_064450.3:p.Pro947Leu | |
| NM_001305424.2:c.2852C>T | NP_001292353.1:p.Pro951Leu | |
| NM_001348094.2:c.1986+19390C>T | NP_001335023.1:n.1986+19390C>T |