Linked Data
dbSNP Id:
rs747742715
ExAC:
4:74275008 T / G
gnomAD v2:
4-74275008-T-G
gnomAD v4:
4-73409291-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73409291T>G , CM000666.2:g.73409291T>G | GRCh38 |
| NC_000004.11:g.74275008T>G , CM000666.1:g.74275008T>G | GRCh37 |
| NC_000004.10:g.74493872T>G | NCBI36 |
| NG_009291.1:g.10037T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.483-64T>G MANE Select | ENSP00000295897.4:n.483-64T>G | |
| ENST00000295897.8:c.483-64T>G | ENSP00000295897.4:n.483-64T>G | |
| ENST00000401494.7:c.138-64T>G | ENSP00000384695.3:n.138-64T>G | |
| ENST00000415165.6:c.138-2705T>G | ENSP00000401820.2:n.138-2705T>G | |
| ENST00000441319.5:c.489-64T>G | ENSP00000392541.1:n.489-64T>G | |
| ENST00000476441.6:c.80-64T>G | ENSP00000423727.1:n.80-64T>G | |
| ENST00000503124.5:c.33-64T>G | ENSP00000421027.1:n.33-64T>G | |
| ENST00000505649.5:n.169-64T>G | ||
| ENST00000509063.5:c.483-64T>G | ENSP00000422784.1:n.483-64T>G | |
| ENST00000514786.1:n.452-64T>G | ||
| ENST00000621085.4:c.483-64T>G | ENSP00000483421.1:n.483-64T>G | |
| ENST00000621628.4:c.486+215T>G | ENSP00000480485.1:n.486+215T>G | |
| NM_000477.5:c.483-64T>G | NP_000468.1:n.483-64T>G | |
| NM_000477.6:c.483-64T>G | NP_000468.1:n.483-64T>G | |
| NM_000477.7:c.483-64T>G MANE Select | NP_000468.1:n.483-64T>G |