Linked Data
dbSNP Id:
rs905701074
gnomAD v2:
11-2593460-C-A
gnomAD v3:
11-2572230-C-A
gnomAD v4:
11-2572230-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572230C>A , CM000673.2:g.2572230C>A | GRCh38 |
| NC_000011.9:g.2593460C>A , CM000673.1:g.2593460C>A | GRCh37 |
| NC_000011.8:g.2550036C>A | NCBI36 |
| NG_008935.1:g.132240C>A , LRG_287:g.132240C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.519+121C>A | ENSP00000434560.2:n.519+121C>A | |
| ENST00000646564.2:c.478-11205C>A | ENSP00000495806.2:n.478-11205C>A | |
| ENST00000155840.12:c.780+121C>A MANE Select | ENSP00000155840.2:n.780+121C>A | |
| ENST00000335475.6:c.399+121C>A | ENSP00000334497.5:n.399+121C>A | |
| ENST00000646564.1:c.124-11205C>A | ENSP00000495806.1:n.124-11205C>A | |
| ENST00000155840.9:c.780+121C>A | ENSP00000155840.2:n.780+121C>A | |
| ENST00000335475.5:c.399+121C>A | ENSP00000334497.5:n.399+121C>A | |
| ENST00000496887.6:c.519+121C>A | ENSP00000434560.1:n.519+121C>A | |
| NM_000218.2:c.780+121C>A , LRG_287t1:c.780+121C>A | NP_000209.2:n.780+121C>A | |
| NM_181798.1:c.399+121C>A , LRG_287t2:c.399+121C>A | NP_861463.1:n.399+121C>A | |
| NM_000218.3:c.780+121C>A MANE Select | NP_000209.2:n.780+121C>A |