Linked Data
dbSNP Id:
rs749542793
ExAC:
1:17349075 A / T
gnomAD v2:
1-17349075-A-T
gnomAD v3:
1-17022580-A-T
gnomAD v4:
1-17022580-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022580A>T , CM000663.2:g.17022580A>T | GRCh38 |
| NC_000001.10:g.17349075A>T , CM000663.1:g.17349075A>T | GRCh37 |
| NC_000001.9:g.17221662A>T | NCBI36 |
| NG_012340.1:g.36591T>A , LRG_316:g.36591T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.594+28T>A | ENSP00000481376.2:n.594+28T>A | |
| ENST00000491274.6:c.723+28T>A | ENSP00000480482.2:n.723+28T>A | |
| ENST00000375499.8:c.765+28T>A MANE Select | ENSP00000364649.3:n.765+28T>A | |
| ENST00000375499.7:c.765+28T>A | ENSP00000364649.3:n.765+28T>A | |
| ENST00000475049.5:n.190+28T>A | ||
| ENST00000485092.5:n.429+28T>A | ||
| NM_003000.2:c.765+28T>A , LRG_316t1:c.765+28T>A | NP_002991.2:n.765+28T>A | |
| NM_003000.3:c.765+28T>A MANE Select | NP_002991.2:n.765+28T>A |