Linked Data
ClinVar Variation Id:
388733
dbSNP Id:
rs371716153
ExAC:
11:118898423 G / A
gnomAD v2:
11-118898423-G-A
gnomAD v3:
11-119027713-G-A
gnomAD v4:
11-119027713-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027713G>A , CM000673.2:g.119027713G>A | GRCh38 |
| NC_000011.9:g.118898423G>A , CM000673.1:g.118898423G>A | GRCh37 |
| NC_000011.8:g.118403633G>A | NCBI36 |
| NG_013331.1:g.8193C>T , LRG_187:g.8193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.770C>T | ||
| ENST00000697845.1:n.694C>T | ||
| ENST00000697846.1:n.770C>T | ||
| ENST00000697847.1:n.770C>T | ||
| ENST00000697848.1:n.770C>T | ||
| ENST00000697849.1:n.1809C>T | ||
| ENST00000697850.1:n.770C>T | ||
| ENST00000697851.1:n.2130C>T | ||
| ENST00000638186.1:n.844C>T | ||
| ENST00000638360.1:n.676C>T | ||
| ENST00000638925.1:n.777C>T | ||
| ENST00000650539.1:n.946C>T | ||
| ENST00000330775.9:c.540C>T | ENSP00000476242.2:p.Ser180= | |
| ENST00000357590.9:c.540C>T | ENSP00000476176.2:p.Ser180= | |
| ENST00000524428.5:n.862C>T | ||
| ENST00000525039.5:n.964C>T | ||
| ENST00000525102.5:n.1298C>T | ||
| ENST00000525372.5:n.541C>T | ||
| ENST00000526275.5:n.1322C>T | ||
| ENST00000526626.6:n.503C>T | ||
| ENST00000527992.5:n.768C>T | ||
| ENST00000529510.5:n.399+481C>T | ||
| ENST00000530407.5:n.690C>T | ||
| ENST00000532085.1:n.3151C>T | ||
| ENST00000532888.6:n.836C>T | ||
| ENST00000538950.5:c.321C>T | ENSP00000475991.2:p.Ser107= | |
| ENST00000545985.5:c.540C>T | ENSP00000475241.2:p.Ser180= | |
| NM_001164277.1:c.540C>T , LRG_187t1:c.540C>T | NP_001157749.1:p.Ser180= | |
| NM_001164278.1:c.540C>T | NP_001157750.1:p.Ser180= | |
| NM_001164279.1:c.321C>T | NP_001157751.1:p.Ser107= | |
| NM_001164280.1:c.540C>T | NP_001157752.1:p.Ser180= | |
| NM_001467.5:c.540C>T | NP_001458.1:p.Ser180= | |
| NM_001164278.2:c.540C>T | NP_001157750.1:p.Ser180= | |
| NM_001164279.2:c.321C>T | NP_001157751.1:p.Ser107= | |
| NM_001164280.2:c.540C>T | NP_001157752.1:p.Ser180= | |
| NM_001467.6:c.540C>T | NP_001458.1:p.Ser180= | |
| NM_001164277.2:c.540C>T MANE Select | NP_001157749.1:p.Ser180= |