Linked Data
dbSNP Id:
rs368481376
ExAC:
4:74286045 A / G
gnomAD v2:
4-74286045-A-G
gnomAD v3:
4-73420328-A-G
gnomAD v4:
4-73420328-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73420328A>G , CM000666.2:g.73420328A>G | GRCh38 |
| NC_000004.11:g.74286045A>G , CM000666.1:g.74286045A>G | GRCh37 |
| NC_000004.10:g.74504909A>G | NCBI36 |
| NG_009291.1:g.21074A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.*23+7A>G MANE Select | ENSP00000295897.4:n.*23+7A>G | |
| ENST00000295897.8:c.*23+7A>G | ENSP00000295897.4:n.*23+7A>G | |
| ENST00000401494.7:c.*23+7A>G | ENSP00000384695.3:n.*23+7A>G | |
| ENST00000415165.6:c.*23+7A>G | ENSP00000401820.2:n.*23+7A>G | |
| ENST00000476441.6:c.*1132+7A>G | ENSP00000423727.1:n.*1132+7A>G | |
| ENST00000495173.1:n.161+7A>G | ||
| ENST00000503124.5:c.*23+7A>G | ENSP00000421027.1:n.*23+7A>G | |
| ENST00000505649.5:n.1400+7A>G | ||
| ENST00000508932.5:n.243+7A>G | ||
| ENST00000509063.5:c.1785+689A>G | ENSP00000422784.1:n.1785+689A>G | |
| ENST00000511370.1:c.1386+7A>G | ||
| ENST00000621085.4:c.*23+7A>G | ENSP00000483421.1:n.*23+7A>G | |
| ENST00000621628.4:c.*23+7A>G | ENSP00000480485.1:n.*23+7A>G | |
| NM_000477.5:c.*23+7A>G | NP_000468.1:n.*23+7A>G | |
| NM_000477.6:c.*23+7A>G | NP_000468.1:n.*23+7A>G | |
| NM_000477.7:c.*23+7A>G MANE Select | NP_000468.1:n.*23+7A>G |