Linked Data
dbSNP Id:
rs770521287
ExAC:
7:107533767 A / G
gnomAD v2:
7-107533767-A-G
gnomAD v4:
7-107893322-A-G
COSMIC:
COSN20059547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107893322A>G , CM000669.2:g.107893322A>G | GRCh38 |
| NC_000007.13:g.107533767A>G , CM000669.1:g.107533767A>G | GRCh37 |
| NC_000007.12:g.107321003A>G | NCBI36 |
| NG_008045.1:g.7182A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.118+44A>G MANE Select | ENSP00000205402.3:n.118+44A>G | |
| ENST00000639772.1:c.118+44A>G | ENSP00000492159.1:n.118+44A>G | |
| ENST00000205402.9:c.118+44A>G | ENSP00000205402.3:n.118+44A>G | |
| ENST00000415325.5:c.118+44A>G | ENSP00000402593.1:n.118+44A>G | |
| ENST00000417551.5:c.118+44A>G | ENSP00000390667.1:n.118+44A>G | |
| ENST00000437604.6:c.118+44A>G | ENSP00000387542.2:n.118+44A>G | |
| ENST00000440410.5:c.118+44A>G | ENSP00000417016.1:n.118+44A>G | |
| ENST00000450038.5:c.118+44A>G | ENSP00000409590.1:n.118+44A>G | |
| ENST00000451081.5:c.118+44A>G | ENSP00000388077.1:n.118+44A>G | |
| ENST00000453354.5:n.183+44A>G | ||
| ENST00000460577.5:n.152+44A>G | ||
| ENST00000485066.1:n.251A>G | ||
| ENST00000494441.1:n.263+44A>G | ||
| NM_000108.4:c.118+44A>G | NP_000099.2:n.118+44A>G | |
| NM_001289750.1:c.-31+44A>G | NP_001276679.1:n.-31+44A>G | |
| NM_001289751.1:c.118+44A>G | NP_001276680.1:n.118+44A>G | |
| NM_001289752.1:c.118+44A>G | NP_001276681.1:n.118+44A>G | |
| NM_000108.5:c.118+44A>G MANE Select | NP_000099.2:n.118+44A>G |