Linked Data
dbSNP Id:
rs781865744
ExAC:
11:118900043 T / C
gnomAD v2:
11-118900043-T-C
gnomAD v3:
11-119029333-T-C
gnomAD v4:
11-119029333-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029333T>C , CM000673.2:g.119029333T>C | GRCh38 |
| NC_000011.9:g.118900043T>C , CM000673.1:g.118900043T>C | GRCh37 |
| NC_000011.8:g.118405253T>C | NCBI36 |
| NG_013331.1:g.6574A>G , LRG_187:g.6574A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.266A>G | ||
| ENST00000697846.1:n.266A>G | ||
| ENST00000697847.1:n.266A>G | ||
| ENST00000697848.1:n.266A>G | ||
| ENST00000697849.1:n.510A>G | ||
| ENST00000697850.1:n.266A>G | ||
| ENST00000697851.1:n.510A>G | ||
| ENST00000638186.1:n.340A>G | ||
| ENST00000638360.1:n.274A>G | ||
| ENST00000638925.1:n.273A>G | ||
| ENST00000650539.1:n.442A>G | ||
| ENST00000330775.9:c.37A>G | ENSP00000476242.2:p.Ile13Val | |
| ENST00000357590.9:c.37A>G | ENSP00000476176.2:p.Ile13Val | |
| ENST00000524428.5:n.37A>G | ||
| ENST00000525039.5:n.460A>G | ||
| ENST00000525102.5:n.794A>G | ||
| ENST00000525372.5:n.37A>G | ||
| ENST00000525787.1:n.332A>G | ||
| ENST00000526626.6:n.232A>G | ||
| ENST00000527992.5:n.264A>G | ||
| ENST00000529510.5:n.55A>G | ||
| ENST00000530407.5:n.197+59A>G | ||
| ENST00000532085.1:n.1531A>G | ||
| ENST00000532888.6:n.232A>G | ||
| ENST00000534384.1:n.257A>G | ||
| ENST00000538950.5:c.-172+59A>G | ENSP00000475991.2:n.-172+59A>G | |
| ENST00000545985.5:c.37A>G | ENSP00000475241.2:p.Ile13Val | |
| NM_001164277.1:c.37A>G , LRG_187t1:c.37A>G | NP_001157749.1:p.Ile13Val | |
| NM_001164278.1:c.37A>G | NP_001157750.1:p.Ile13Val | |
| NM_001164279.1:c.-172+59A>G | NP_001157751.1:n.-172+59A>G | |
| NM_001164280.1:c.37A>G | NP_001157752.1:p.Ile13Val | |
| NM_001467.5:c.37A>G | NP_001458.1:p.Ile13Val | |
| NM_001164278.2:c.37A>G | NP_001157750.1:p.Ile13Val | |
| NM_001164279.2:c.-172+59A>G | NP_001157751.1:n.-172+59A>G | |
| NM_001164280.2:c.37A>G | NP_001157752.1:p.Ile13Val | |
| NM_001467.6:c.37A>G | NP_001458.1:p.Ile13Val | |
| NM_001164277.2:c.37A>G MANE Select | NP_001157749.1:p.Ile13Val |