Linked Data
ClinVar Variation Id:
301090
ClinVar RCV Id:
RCV000400663
dbSNP Id:
rs45533232
ExAC:
10:79793624 T / G
gnomAD v2:
10-79793624-T-G
gnomAD v3:
10-78033866-T-G
gnomAD v4:
10-78033866-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78033866T>G , CM000672.2:g.78033866T>G | GRCh38 |
| NC_000010.10:g.79793624T>G , CM000672.1:g.79793624T>G | GRCh37 |
| NC_000010.9:g.79463630T>G | NCBI36 |
| NG_012633.1:g.5107T>G | |
| NG_029648.1:g.675A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360830.9:c.-36T>G | ENSP00000354074.5:n.-36T>G | |
| ENST00000372360.9:c.-36T>G MANE Select | ENSP00000361435.4:n.-36T>G | |
| ENST00000440692.6:c.-36T>G | ENSP00000414321.1:n.-36T>G | |
| ENST00000464716.6:c.-36T>G | ENSP00000494231.1:n.-36T>G | |
| ENST00000478655.6:n.4T>G | ||
| ENST00000485708.7:n.4T>G | ||
| ENST00000613865.5:c.-36T>G | ENSP00000478869.2:n.-36T>G | |
| ENST00000645440.1:c.-36T>G | ENSP00000496738.1:n.-36T>G | |
| ENST00000372360.7:c.-36T>G | ENSP00000361435.3:n.-36T>G | |
| ENST00000435275.5:c.-36T>G | ENSP00000415549.1:n.-36T>G | |
| ENST00000440692.5:c.-36T>G | ENSP00000414321.1:n.-36T>G | |
| ENST00000478655.5:n.4T>G | ||
| ENST00000485708.6:n.23T>G | ||
| ENST00000613865.4:c.-36T>G | ENSP00000478869.1:n.-36T>G | |
| NM_001026.4:c.-36T>G | NP_001017.1:n.-36T>G | |
| NM_001142282.1:c.-36T>G | NP_001135754.1:n.-36T>G | |
| NM_001142283.1:c.-36T>G | NP_001135755.1:n.-36T>G | |
| NM_001142284.1:c.-36T>G | NP_001135756.1:n.-36T>G | |
| NM_001142285.1:c.-36T>G | NP_001135757.1:n.-36T>G | |
| NM_033022.3:c.-36T>G | NP_148982.1:n.-36T>G | |
| NM_001142285.2:c.-36T>G | NP_001135757.1:n.-36T>G | |
| NM_033022.4:c.-36T>G MANE Select | NP_148982.1:n.-36T>G | |
| NM_001026.5:c.-36T>G | NP_001017.1:n.-36T>G | |
| NM_001142282.2:c.-36T>G | NP_001135754.1:n.-36T>G | |
| NM_001142283.2:c.-36T>G | NP_001135755.1:n.-36T>G | |
| NM_001142284.2:c.-36T>G | NP_001135756.1:n.-36T>G |