Linked Data
dbSNP Id:
rs78507509
ExAC:
11:67353608 C / G
gnomAD v2:
11-67353608-C-G
gnomAD v3:
11-67586137-C-G
gnomAD v4:
11-67586137-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586137C>G , CM000673.2:g.67586137C>G | GRCh38 |
| NC_000011.9:g.67353608C>G , CM000673.1:g.67353608C>G | GRCh37 |
| NC_000011.8:g.67110184C>G | NCBI36 |
| NG_012075.1:g.7543C>G , LRG_723:g.7543C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-252C>G | ENSP00000381604.1:n.337-252C>G | |
| ENST00000398606.10:c.370C>G MANE Select | ENSP00000381607.3:p.Pro124Ala | |
| ENST00000646888.1:c.*86C>G | ENSP00000494477.1:n.*86C>G | |
| ENST00000398603.5:c.337-252C>G | ENSP00000381604.1:n.337-252C>G | |
| ENST00000398606.7:c.370C>G | ENSP00000381607.3:p.Pro124Ala | |
| ENST00000467591.1:n.481C>G | ||
| ENST00000494593.1:n.1165C>G | ||
| ENST00000495996.1:c.34C>G | ENSP00000484686.1:p.Pro12Ala | |
| ENST00000498765.5:c.433C>G | ||
| NM_000852.3:c.370C>G , LRG_723t1:c.370C>G | NP_000843.1:p.Pro124Ala | |
| NM_000852.4:c.370C>G MANE Select | NP_000843.1:p.Pro124Ala |