Linked Data
dbSNP Id:
rs755175008
ExAC:
11:118898557 G / A
gnomAD v2:
11-118898557-G-A
gnomAD v3:
11-119027847-G-A
gnomAD v4:
11-119027847-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027847G>A , CM000673.2:g.119027847G>A | GRCh38 |
| NC_000011.9:g.118898557G>A , CM000673.1:g.118898557G>A | GRCh37 |
| NC_000011.8:g.118403767G>A | NCBI36 |
| NG_013331.1:g.8060C>T , LRG_187:g.8060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.636C>T | ||
| ENST00000697845.1:n.560C>T | ||
| ENST00000697846.1:n.636C>T | ||
| ENST00000697847.1:n.636C>T | ||
| ENST00000697848.1:n.636C>T | ||
| ENST00000697849.1:n.1675C>T | ||
| ENST00000697850.1:n.636C>T | ||
| ENST00000697851.1:n.1996C>T | ||
| ENST00000638186.1:n.710C>T | ||
| ENST00000638360.1:n.619-77C>T | ||
| ENST00000638925.1:n.643C>T | ||
| ENST00000650539.1:n.812C>T | ||
| ENST00000330775.9:c.407C>T | ENSP00000476242.2:p.Thr136Ile | |
| ENST00000357590.9:c.407C>T | ENSP00000476176.2:p.Thr136Ile | |
| ENST00000524428.5:n.728C>T | ||
| ENST00000525039.5:n.830C>T | ||
| ENST00000525102.5:n.1164C>T | ||
| ENST00000525372.5:n.407C>T | ||
| ENST00000525787.1:n.1023C>T | ||
| ENST00000526275.5:n.1188C>T | ||
| ENST00000526626.6:n.369C>T | ||
| ENST00000527992.5:n.634C>T | ||
| ENST00000529510.5:n.399+347C>T | ||
| ENST00000530407.5:n.556C>T | ||
| ENST00000532085.1:n.3017C>T | ||
| ENST00000532888.6:n.702C>T | ||
| ENST00000538950.5:c.188C>T | ENSP00000475991.2:p.Thr63Ile | |
| ENST00000545985.5:c.407C>T | ENSP00000475241.2:p.Thr136Ile | |
| NM_001164277.1:c.407C>T , LRG_187t1:c.407C>T | NP_001157749.1:p.Thr136Ile | |
| NM_001164278.1:c.407C>T | NP_001157750.1:p.Thr136Ile | |
| NM_001164279.1:c.188C>T | NP_001157751.1:p.Thr63Ile | |
| NM_001164280.1:c.407C>T | NP_001157752.1:p.Thr136Ile | |
| NM_001467.5:c.407C>T | NP_001458.1:p.Thr136Ile | |
| NM_001164278.2:c.407C>T | NP_001157750.1:p.Thr136Ile | |
| NM_001164279.2:c.188C>T | NP_001157751.1:p.Thr63Ile | |
| NM_001164280.2:c.407C>T | NP_001157752.1:p.Thr136Ile | |
| NM_001467.6:c.407C>T | NP_001458.1:p.Thr136Ile | |
| NM_001164277.2:c.407C>T MANE Select | NP_001157749.1:p.Thr136Ile |