Linked Data
dbSNP Id:
rs997371255
gnomAD v2:
4-72608136-T-A
gnomAD v3:
4-71742419-T-A
gnomAD v4:
4-71742419-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71742419T>A , CM000666.2:g.71742419T>A | GRCh38 |
| NC_000004.11:g.72608136T>A , CM000666.1:g.72608136T>A | GRCh37 |
| NC_000004.10:g.72827000T>A | NCBI36 |
| NG_012837.2:g.68102A>T | |
| NG_012837.3:g.68102A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273951.13:c.*26-549A>T MANE Select | ENSP00000273951.8:n.*26-549A>T | |
| ENST00000273951.12:c.*26-549A>T | ENSP00000273951.8:n.*26-549A>T | |
| ENST00000503364.5:n.124-549A>T | ||
| ENST00000503472.5:n.1335-549A>T | ||
| ENST00000504199.5:c.*26-549A>T | ENSP00000421725.1:n.*26-549A>T | |
| ENST00000509740.5:c.*274-549A>T | ENSP00000422664.1:n.*274-549A>T | |
| ENST00000513476.5:c.1396-549A>T | ENSP00000426683.1:n.1396-549A>T | |
| NM_000583.3:c.*26-549A>T | NP_000574.2:n.*26-549A>T | |
| NM_001204306.1:c.*26-549A>T | NP_001191235.1:n.*26-549A>T | |
| NM_001204307.1:c.*26-549A>T | NP_001191236.1:n.*26-549A>T | |
| XM_006714177.2:c.*40-549A>T | XP_006714240.1:n.*40-549A>T | |
| XM_006714177.3:c.*40-549A>T | XP_006714240.1:n.*40-549A>T | |
| NM_000583.4:c.*26-549A>T MANE Select | NP_000574.2:n.*26-549A>T |