Linked Data
dbSNP Id:
rs1558174649
gnomAD v3:
1-161340701-A-C
gnomAD v4:
1-161340701-A-C
COSMIC:
COSN7180776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161340701A>C , CM000663.2:g.161340701A>C | GRCh38 |
| NC_000001.10:g.161310491A>C , CM000663.1:g.161310491A>C | GRCh37 |
| NC_000001.9:g.159577115A>C | NCBI36 |
| NG_012767.1:g.31326A>C , LRG_317:g.31326A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*242+46A>C | ENSP00000482902.2:n.*242+46A>C | |
| ENST00000367975.7:c.241+46A>C MANE Select | ENSP00000356953.3:n.241+46A>C | |
| ENST00000342751.8:c.241+46A>C | ENSP00000356952.3:n.241+46A>C | |
| ENST00000367975.6:c.241+46A>C | ENSP00000356953.2:n.241+46A>C | |
| ENST00000392169.6:c.82+46A>C | ENSP00000376009.2:n.82+46A>C | |
| ENST00000432287.6:c.139+46A>C | ENSP00000390558.2:n.139+46A>C | |
| ENST00000470743.4:c.339+46A>C | ||
| ENST00000504963.5:c.*64+46A>C | ENSP00000423929.1:n.*64+46A>C | |
| ENST00000513009.5:c.139+46A>C | ENSP00000423260.1:n.139+46A>C | |
| NM_001035511.1:c.241+46A>C | NP_001030588.1:n.241+46A>C | |
| NM_001035512.1:c.139+46A>C | NP_001030589.1:n.139+46A>C | |
| NM_001035513.1:c.82+46A>C | NP_001030590.1:n.82+46A>C | |
| NM_001278172.1:c.139+46A>C | NP_001265101.1:n.139+46A>C | |
| NM_003001.3:c.241+46A>C , LRG_317t1:c.241+46A>C | NP_002992.1:n.241+46A>C | |
| NR_103459.1:n.298+46A>C | ||
| NM_001035511.2:c.241+46A>C | NP_001030588.1:n.241+46A>C | |
| NM_001035512.2:c.139+46A>C | NP_001030589.1:n.139+46A>C | |
| NM_001035513.2:c.82+46A>C | NP_001030590.1:n.82+46A>C | |
| NM_001278172.2:c.139+46A>C | NP_001265101.1:n.139+46A>C | |
| NM_003001.5:c.241+46A>C MANE Select | NP_002992.1:n.241+46A>C | |
| NR_103459.2:n.293+46A>C |