Linked Data
dbSNP Id:
rs967442364
gnomAD v3:
11-2776901-G-A
gnomAD v4:
11-2776901-G-A
COSMIC:
COSN20049926
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776901G>A , CM000673.2:g.2776901G>A | GRCh38 |
| NC_000011.9:g.2798131G>A , CM000673.1:g.2798131G>A | GRCh37 |
| NC_000011.8:g.2754707G>A | NCBI36 |
| NG_008935.1:g.336911G>A , LRG_287:g.336911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1329-85G>A | ENSP00000434560.2:n.1329-85G>A | |
| ENST00000646564.2:c.1146-85G>A | ENSP00000495806.2:n.1146-85G>A | |
| ENST00000155840.12:c.1686-85G>A MANE Select | ENSP00000155840.2:n.1686-85G>A | |
| ENST00000335475.6:c.1305-85G>A | ENSP00000334497.5:n.1305-85G>A | |
| ENST00000646564.1:c.792-85G>A | ENSP00000495806.1:n.792-85G>A | |
| ENST00000155840.9:c.1686-85G>A | ENSP00000155840.2:n.1686-85G>A | |
| ENST00000335475.5:c.1305-85G>A | ENSP00000334497.5:n.1305-85G>A | |
| NM_000218.2:c.1686-85G>A , LRG_287t1:c.1686-85G>A | NP_000209.2:n.1686-85G>A | |
| NM_181798.1:c.1305-85G>A , LRG_287t2:c.1305-85G>A | NP_861463.1:n.1305-85G>A | |
| NM_000218.3:c.1686-85G>A MANE Select | NP_000209.2:n.1686-85G>A |