Linked Data
dbSNP Id:
rs777173084
ExAC:
7:65426018 T / G
gnomAD v2:
7-65426018-T-G
gnomAD v4:
7-65961031-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961031T>G , CM000669.2:g.65961031T>G | GRCh38 |
| NC_000007.13:g.65426018T>G , CM000669.1:g.65426018T>G | GRCh37 |
| NC_000007.12:g.65063453T>G | NCBI36 |
| NG_016197.1:g.26284A>C | |
| NG_051954.1:g.92933T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1822A>C MANE Select | ENSP00000302728.4:p.Ile608Leu | |
| ENST00000304895.8:c.1822A>C | ENSP00000302728.4:p.Ile608Leu | |
| ENST00000421103.5:c.1384A>C | ENSP00000391390.1:p.Ile462Leu | |
| ENST00000430730.5:c.*1089A>C | ENSP00000411859.1:n.*1089A>C | |
| ENST00000447929.5:c.*1202A>C | ENSP00000411262.1:n.*1202A>C | |
| ENST00000466883.5:n.2212A>C | ||
| NM_000181.3:c.1822A>C | NP_000172.2:p.Ile608Leu | |
| NM_001284290.1:c.1384A>C | NP_001271219.1:p.Ile462Leu | |
| NM_001293104.1:c.1252A>C | NP_001280033.1:p.Ile418Leu | |
| NM_001293105.1:c.1165A>C | NP_001280034.1:p.Ile389Leu | |
| NR_120531.1:n.1868A>C | ||
| XM_005250297.3:c.1669A>C | XP_005250354.1:p.Ile557Leu | |
| XM_011516113.1:c.1321A>C | XP_011514415.1:p.Ile441Leu | |
| XM_011516114.1:c.1150A>C | XP_011514416.1:p.Ile384Leu | |
| XM_005250297.4:c.1669A>C | XP_005250354.1:p.Ile557Leu | |
| XM_011516114.2:c.1150A>C | XP_011514416.1:p.Ile384Leu | |
| XM_017012091.1:c.1168A>C | XP_016867580.1:p.Ile390Leu | |
| XM_017012092.1:c.1099A>C | XP_016867581.1:p.Ile367Leu | |
| XM_017012093.2:c.997A>C | XP_016867582.1:p.Ile333Leu | |
| XR_001744658.2:n.1629A>C | ||
| XR_001744659.2:n.1742A>C | ||
| XR_001744660.2:n.1674A>C | ||
| XR_001744661.2:n.1589A>C | ||
| XR_927461.3:n.1827A>C | ||
| NM_000181.4:c.1822A>C MANE Select | NP_000172.2:p.Ile608Leu | |
| NM_001284290.2:c.1384A>C | NP_001271219.1:p.Ile462Leu | |
| NM_001293104.2:c.1252A>C | NP_001280033.1:p.Ile418Leu | |
| NM_001293105.2:c.1165A>C | NP_001280034.1:p.Ile389Leu | |
| NR_120531.2:n.1767A>C |