Linked Data
dbSNP Id:
rs2282679
gnomAD v2:
4-72608383-T-G
gnomAD v3:
4-71742666-T-G
gnomAD v4:
4-71742666-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71742666T>G , CM000666.2:g.71742666T>G | GRCh38 |
| NC_000004.11:g.72608383T>G , CM000666.1:g.72608383T>G | GRCh37 |
| NC_000004.10:g.72827247T>G | NCBI36 |
| NG_012837.2:g.67855A>C | |
| NG_012837.3:g.67855A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273951.13:c.*26-796A>C MANE Select | ENSP00000273951.8:n.*26-796A>C | |
| ENST00000273951.12:c.*26-796A>C | ENSP00000273951.8:n.*26-796A>C | |
| ENST00000503364.5:n.124-796A>C | ||
| ENST00000503472.5:n.1335-796A>C | ||
| ENST00000504199.5:c.*26-796A>C | ENSP00000421725.1:n.*26-796A>C | |
| ENST00000509740.5:c.*274-796A>C | ENSP00000422664.1:n.*274-796A>C | |
| ENST00000513476.5:c.1396-796A>C | ENSP00000426683.1:n.1396-796A>C | |
| NM_000583.3:c.*26-796A>C | NP_000574.2:n.*26-796A>C | |
| NM_001204306.1:c.*26-796A>C | NP_001191235.1:n.*26-796A>C | |
| NM_001204307.1:c.*26-796A>C | NP_001191236.1:n.*26-796A>C | |
| XM_006714177.2:c.*40-796A>C | XP_006714240.1:n.*40-796A>C | |
| XM_006714177.3:c.*40-796A>C | XP_006714240.1:n.*40-796A>C | |
| NM_000583.4:c.*26-796A>C MANE Select | NP_000574.2:n.*26-796A>C |