Linked Data
ClinVar Variation Id:
1267316
ClinVar RCV Id:
RCV001677341
dbSNP Id:
rs12931267
gnomAD v2:
16-89818732-C-G
gnomAD v3:
16-89752324-C-G
gnomAD v4:
16-89752324-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89752324C>G , CM000678.2:g.89752324C>G | GRCh38 |
| NC_000016.9:g.89818732C>G , CM000678.1:g.89818732C>G | GRCh37 |
| NC_000016.8:g.88346233C>G | NCBI36 |
| NG_011706.1:g.69334G>C , LRG_495:g.69334G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561667.2:c.*1460-102G>C | ENSP00000512522.1:n.*1460-102G>C | |
| ENST00000564475.6:c.2982-102G>C | ENSP00000454977.2:n.2982-102G>C | |
| ENST00000567510.2:c.1552-102G>C | ENSP00000455969.1:n.1552-102G>C | |
| ENST00000568369.6:c.2982-102G>C | ENSP00000456829.1:n.2982-102G>C | |
| ENST00000696274.1:n.2943-102G>C | ||
| ENST00000696275.1:c.*2217-102G>C | ENSP00000512517.1:n.*2217-102G>C | |
| ENST00000696286.1:c.2982-102G>C | ENSP00000512523.1:n.2982-102G>C | |
| ENST00000696287.1:c.2853-102G>C | ENSP00000512524.1:n.2853-102G>C | |
| ENST00000696291.1:c.*2499-2422G>C | ENSP00000512530.1:n.*2499-2422G>C | |
| ENST00000389301.8:c.2982-102G>C MANE Select | ENSP00000373952.3:n.2982-102G>C | |
| ENST00000305699.15:n.225-102G>C | ||
| ENST00000389301.7:c.2982-102G>C | ENSP00000373952.3:n.2982-102G>C | |
| ENST00000561660.1:c.359-102G>C | ||
| ENST00000563318.1:c.544-102G>C | ||
| ENST00000563510.5:c.372-102G>C | ||
| ENST00000567988.5:c.319-2422G>C | ||
| ENST00000568369.5:c.2982-102G>C | ENSP00000456829.1:n.2982-102G>C | |
| NM_000135.2:c.2982-102G>C , LRG_495t1:c.2982-102G>C | NP_000126.2:n.2982-102G>C | |
| NM_001286167.1:c.2982-102G>C | NP_001273096.1:n.2982-102G>C | |
| XM_005256294.3:c.2982-102G>C | XP_005256351.1:n.2982-102G>C | |
| XM_011522945.1:c.2853-102G>C | XP_011521247.1:n.2853-102G>C | |
| XM_011522946.1:c.1959-102G>C | XP_011521248.1:n.1959-102G>C | |
| XM_011522947.1:c.1959-102G>C | XP_011521249.1:n.1959-102G>C | |
| XR_933244.1:n.3025-102G>C | ||
| XR_933245.1:n.3025-102G>C | ||
| XR_933246.1:n.3025-102G>C | ||
| NM_000135.3:c.2982-102G>C | NP_000126.2:n.2982-102G>C | |
| NM_001286167.2:c.2982-102G>C | NP_001273096.1:n.2982-102G>C | |
| XM_005256294.4:c.2982-102G>C | XP_005256351.1:n.2982-102G>C | |
| XM_011522945.2:c.2853-102G>C | XP_011521247.1:n.2853-102G>C | |
| XM_011522946.3:c.1959-102G>C | XP_011521248.1:n.1959-102G>C | |
| XM_011522947.2:c.1959-102G>C | XP_011521249.1:n.1959-102G>C | |
| XM_017023044.2:c.2853-102G>C | XP_016878533.1:n.2853-102G>C | |
| XM_024450189.1:c.1959-102G>C | XP_024305957.1:n.1959-102G>C | |
| XR_001751866.1:n.3025-102G>C | ||
| XR_933244.2:n.3025-102G>C | ||
| XR_933245.2:n.3025-102G>C | ||
| NM_000135.4:c.2982-102G>C MANE Select | NP_000126.2:n.2982-102G>C | |
| NM_001286167.3:c.2982-102G>C | NP_001273096.1:n.2982-102G>C |