Linked Data
dbSNP Id:
rs28383066
ExAC:
2:31754344 C / A
gnomAD v2:
2-31754344-C-A
gnomAD v3:
2-31529274-C-A
gnomAD v4:
2-31529274-C-A
COSMIC:
COSN24384620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529274C>A , CM000664.2:g.31529274C>A | GRCh38 |
| NC_000002.11:g.31754344C>A , CM000664.1:g.31754344C>A | GRCh37 |
| NC_000002.10:g.31607848C>A | NCBI36 |
| NG_008365.1:g.56698G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.698+33G>T MANE Select | ENSP00000477587.1:n.698+33G>T | |
| ENST00000622030.1:c.698+33G>T | ENSP00000477587.1:n.698+33G>T | |
| NM_000348.3:c.698+33G>T | NP_000339.2:n.698+33G>T | |
| XM_011533069.1:c.476+33G>T | XP_011531371.1:n.476+33G>T | |
| XM_011533070.1:c.443+33G>T | XP_011531372.1:n.443+33G>T | |
| XM_011533071.1:c.443+33G>T | XP_011531373.1:n.443+33G>T | |
| XM_011533072.1:c.443+33G>T | XP_011531374.1:n.443+33G>T | |
| XM_011533069.2:c.476+33G>T | XP_011531371.1:n.476+33G>T | |
| XM_011533072.2:c.443+33G>T | XP_011531374.1:n.443+33G>T | |
| NM_000348.4:c.698+33G>T MANE Select | NP_000339.2:n.698+33G>T |