Linked Data
dbSNP Id:
rs367783945
ExAC:
4:74272330 A / G
gnomAD v2:
4-74272330-A-G
gnomAD v3:
4-73406613-A-G
gnomAD v4:
4-73406613-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73406613A>G , CM000666.2:g.73406613A>G | GRCh38 |
| NC_000004.11:g.74272330A>G , CM000666.1:g.74272330A>G | GRCh37 |
| NC_000004.10:g.74491194A>G | NCBI36 |
| NG_009291.1:g.7359A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.138-16A>G MANE Select | ENSP00000295897.4:n.138-16A>G | |
| ENST00000295897.8:c.138-16A>G | ENSP00000295897.4:n.138-16A>G | |
| ENST00000401494.7:c.137+1440A>G | ENSP00000384695.3:n.137+1440A>G | |
| ENST00000415165.6:c.137+1440A>G | ENSP00000401820.2:n.137+1440A>G | |
| ENST00000441319.5:c.144-16A>G | ENSP00000392541.1:n.144-16A>G | |
| ENST00000476441.6:c.79+2207A>G | ENSP00000423727.1:n.79+2207A>G | |
| ENST00000503124.5:c.-101-16A>G | ENSP00000421027.1:n.-101-16A>G | |
| ENST00000509063.5:c.138-16A>G | ENSP00000422784.1:n.138-16A>G | |
| ENST00000510166.5:n.174-16A>G | ||
| ENST00000514786.1:n.107-16A>G | ||
| ENST00000515133.5:n.179-16A>G | ||
| ENST00000621085.4:c.138-16A>G | ENSP00000483421.1:n.138-16A>G | |
| ENST00000621628.4:c.138-16A>G | ENSP00000480485.1:n.138-16A>G | |
| NM_000477.5:c.138-16A>G | NP_000468.1:n.138-16A>G | |
| NM_000477.6:c.138-16A>G | NP_000468.1:n.138-16A>G | |
| NM_000477.7:c.138-16A>G MANE Select | NP_000468.1:n.138-16A>G |