Linked Data
ClinVar Variation Id:
2202341
ClinVar RCV Id:
RCV002664060
dbSNP Id:
rs765216228
ExAC:
11:2604795 G / A
gnomAD v2:
11-2604795-G-A
gnomAD v4:
11-2583565-G-A
COSMIC:
COSN19693139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583565G>A , CM000673.2:g.2583565G>A | GRCh38 |
| NC_000011.9:g.2604795G>A , CM000673.1:g.2604795G>A | GRCh37 |
| NC_000011.8:g.2561371G>A | NCBI36 |
| NG_008935.1:g.143575G>A , LRG_287:g.143575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+20G>A | ENSP00000434560.2:n.771+20G>A | |
| ENST00000646564.2:c.588+20G>A | ENSP00000495806.2:n.588+20G>A | |
| ENST00000155840.12:c.1032+20G>A MANE Select | ENSP00000155840.2:n.1032+20G>A | |
| ENST00000335475.6:c.651+20G>A | ENSP00000334497.5:n.651+20G>A | |
| ENST00000646564.1:c.234+20G>A | ENSP00000495806.1:n.234+20G>A | |
| ENST00000155840.9:c.1032+20G>A | ENSP00000155840.2:n.1032+20G>A | |
| ENST00000335475.5:c.651+20G>A | ENSP00000334497.5:n.651+20G>A | |
| NM_000218.2:c.1032+20G>A , LRG_287t1:c.1032+20G>A | NP_000209.2:n.1032+20G>A | |
| NM_181798.1:c.651+20G>A , LRG_287t2:c.651+20G>A | NP_861463.1:n.651+20G>A | |
| NM_000218.3:c.1032+20G>A MANE Select | NP_000209.2:n.1032+20G>A |