Linked Data
dbSNP Id:
rs376004099
ExAC:
4:74274276 T / G
gnomAD v2:
4-74274276-T-G
gnomAD v4:
4-73408559-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73408559T>G , CM000666.2:g.73408559T>G | GRCh38 |
| NC_000004.11:g.74274276T>G , CM000666.1:g.74274276T>G | GRCh37 |
| NC_000004.10:g.74493140T>G | NCBI36 |
| NG_009291.1:g.9305T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.271-35T>G MANE Select | ENSP00000295897.4:n.271-35T>G | |
| ENST00000295897.8:c.271-35T>G | ENSP00000295897.4:n.271-35T>G | |
| ENST00000401494.7:c.138-796T>G | ENSP00000384695.3:n.138-796T>G | |
| ENST00000415165.6:c.137+3386T>G | ENSP00000401820.2:n.137+3386T>G | |
| ENST00000441319.5:c.277-35T>G | ENSP00000392541.1:n.277-35T>G | |
| ENST00000476441.6:c.80-796T>G | ENSP00000423727.1:n.80-796T>G | |
| ENST00000503124.5:c.33-796T>G | ENSP00000421027.1:n.33-796T>G | |
| ENST00000509063.5:c.271-35T>G | ENSP00000422784.1:n.271-35T>G | |
| ENST00000510166.5:n.307-35T>G | ||
| ENST00000514786.1:n.240-35T>G | ||
| ENST00000515133.5:n.312-35T>G | ||
| ENST00000621085.4:c.271-35T>G | ENSP00000483421.1:n.271-35T>G | |
| ENST00000621628.4:c.271-35T>G | ENSP00000480485.1:n.271-35T>G | |
| NM_000477.5:c.271-35T>G | NP_000468.1:n.271-35T>G | |
| NM_000477.6:c.271-35T>G | NP_000468.1:n.271-35T>G | |
| NM_000477.7:c.271-35T>G MANE Select | NP_000468.1:n.271-35T>G |