Linked Data
dbSNP Id:
rs1560385547
gnomAD v2:
4-74285858-A-T
gnomAD v3:
4-73420141-A-T
gnomAD v4:
4-73420141-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73420141A>T , CM000666.2:g.73420141A>T | GRCh38 |
| NC_000004.11:g.74285858A>T , CM000666.1:g.74285858A>T | GRCh37 |
| NC_000004.10:g.74504722A>T | NCBI36 |
| NG_009291.1:g.20887A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1786-113A>T MANE Select | ENSP00000295897.4:n.1786-113A>T | |
| ENST00000295897.8:c.1786-113A>T | ENSP00000295897.4:n.1786-113A>T | |
| ENST00000401494.7:c.1441-113A>T | ENSP00000384695.3:n.1441-113A>T | |
| ENST00000415165.6:c.1210-113A>T | ENSP00000401820.2:n.1210-113A>T | |
| ENST00000476441.6:c.*1065-113A>T | ENSP00000423727.1:n.*1065-113A>T | |
| ENST00000495173.1:n.94-113A>T | ||
| ENST00000503124.5:c.1336-113A>T | ENSP00000421027.1:n.1336-113A>T | |
| ENST00000505649.5:n.1333-113A>T | ||
| ENST00000508932.5:n.176-113A>T | ||
| ENST00000509063.5:c.1785+502A>T | ENSP00000422784.1:n.1785+502A>T | |
| ENST00000511370.1:c.1319-113A>T | ||
| ENST00000621085.4:c.1147-113A>T | ENSP00000483421.1:n.1147-113A>T | |
| ENST00000621628.4:c.1147-113A>T | ENSP00000480485.1:n.1147-113A>T | |
| NM_000477.5:c.1786-113A>T | NP_000468.1:n.1786-113A>T | |
| NM_000477.6:c.1786-113A>T | NP_000468.1:n.1786-113A>T | |
| NM_000477.7:c.1786-113A>T MANE Select | NP_000468.1:n.1786-113A>T |