Linked Data
dbSNP Id:
rs1215691223
gnomAD v2:
11-118896270-T-C
gnomAD v3:
11-119025560-T-C
gnomAD v4:
11-119025560-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025560T>C , CM000673.2:g.119025560T>C | GRCh38 |
| NC_000011.9:g.118896270T>C , CM000673.1:g.118896270T>C | GRCh37 |
| NC_000011.8:g.118401480T>C | NCBI36 |
| NG_013331.1:g.10346A>G , LRG_187:g.10346A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1194+132A>G | ||
| ENST00000697845.1:n.2183+132A>G | ||
| ENST00000697846.1:n.1326A>G | ||
| ENST00000697847.1:n.1267+132A>G | ||
| ENST00000697848.1:n.1412A>G | ||
| ENST00000697849.1:n.3430A>G | ||
| ENST00000697850.1:n.1621A>G | ||
| ENST00000697851.1:n.2823-231A>G | ||
| ENST00000638186.1:n.1289-231A>G | ||
| ENST00000638360.1:n.1121-231A>G | ||
| ENST00000638925.1:n.1254-231A>G | ||
| ENST00000650539.1:n.1456+132A>G | ||
| ENST00000330775.9:c.985-231A>G | ENSP00000476242.2:n.985-231A>G | |
| ENST00000357590.9:c.1050+132A>G | ENSP00000476176.2:n.1050+132A>G | |
| ENST00000524428.5:n.1221-231A>G | ||
| ENST00000525039.5:n.1474+132A>G | ||
| ENST00000525102.5:n.1743-231A>G | ||
| ENST00000525372.5:n.1083-231A>G | ||
| ENST00000526275.5:n.1767-231A>G | ||
| ENST00000527992.5:n.1213-231A>G | ||
| ENST00000529510.5:n.673-231A>G | ||
| ENST00000530407.5:n.1135-231A>G | ||
| ENST00000532085.1:n.4772A>G | ||
| ENST00000538950.5:c.766-231A>G | ENSP00000475991.2:n.766-231A>G | |
| ENST00000545985.5:c.985-231A>G | ENSP00000475241.2:n.985-231A>G | |
| NM_001164277.1:c.985-231A>G , LRG_187t1:c.985-231A>G | NP_001157749.1:n.985-231A>G | |
| NM_001164278.1:c.1050+132A>G | NP_001157750.1:n.1050+132A>G | |
| NM_001164279.1:c.766-231A>G | NP_001157751.1:n.766-231A>G | |
| NM_001164280.1:c.985-231A>G | NP_001157752.1:n.985-231A>G | |
| NM_001467.5:c.985-231A>G | NP_001458.1:n.985-231A>G | |
| NM_001164278.2:c.1050+132A>G | NP_001157750.1:n.1050+132A>G | |
| NM_001164279.2:c.766-231A>G | NP_001157751.1:n.766-231A>G | |
| NM_001164280.2:c.985-231A>G | NP_001157752.1:n.985-231A>G | |
| NM_001467.6:c.985-231A>G | NP_001458.1:n.985-231A>G | |
| NM_001164277.2:c.985-231A>G MANE Select | NP_001157749.1:n.985-231A>G |