Linked Data
dbSNP Id:
rs754238750
ExAC:
7:65425915 G / A
gnomAD v2:
7-65425915-G-A
gnomAD v4:
7-65960928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960928G>A , CM000669.2:g.65960928G>A | GRCh38 |
| NC_000007.13:g.65425915G>A , CM000669.1:g.65425915G>A | GRCh37 |
| NC_000007.12:g.65063350G>A | NCBI36 |
| NG_016197.1:g.26387C>T | |
| NG_051954.1:g.92830G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1925C>T MANE Select | ENSP00000302728.4:p.Ser642Leu | |
| ENST00000304895.8:c.1925C>T | ENSP00000302728.4:p.Ser642Leu | |
| ENST00000421103.5:c.1487C>T | ENSP00000391390.1:p.Ser496Leu | |
| ENST00000430730.5:c.*1192C>T | ENSP00000411859.1:n.*1192C>T | |
| ENST00000447929.5:c.*1305C>T | ENSP00000411262.1:n.*1305C>T | |
| ENST00000466883.5:n.2315C>T | ||
| NM_000181.3:c.1925C>T | NP_000172.2:p.Ser642Leu | |
| NM_001284290.1:c.1487C>T | NP_001271219.1:p.Ser496Leu | |
| NM_001293104.1:c.1355C>T | NP_001280033.1:p.Ser452Leu | |
| NM_001293105.1:c.1268C>T | NP_001280034.1:p.Ser423Leu | |
| NR_120531.1:n.1971C>T | ||
| XM_005250297.3:c.1772C>T | XP_005250354.1:p.Ser591Leu | |
| XM_011516113.1:c.1424C>T | XP_011514415.1:p.Ser475Leu | |
| XM_011516114.1:c.1253C>T | XP_011514416.1:p.Ser418Leu | |
| XM_005250297.4:c.1772C>T | XP_005250354.1:p.Ser591Leu | |
| XM_011516114.2:c.1253C>T | XP_011514416.1:p.Ser418Leu | |
| XM_017012091.1:c.1271C>T | XP_016867580.1:p.Ser424Leu | |
| XM_017012092.1:c.1202C>T | XP_016867581.1:p.Ser401Leu | |
| XM_017012093.2:c.1100C>T | XP_016867582.1:p.Ser367Leu | |
| XR_001744658.2:n.1732C>T | ||
| XR_001744659.2:n.1845C>T | ||
| XR_001744660.2:n.1777C>T | ||
| XR_001744661.2:n.1692C>T | ||
| XR_927461.3:n.1930C>T | ||
| NM_000181.4:c.1925C>T MANE Select | NP_000172.2:p.Ser642Leu | |
| NM_001284290.2:c.1487C>T | NP_001271219.1:p.Ser496Leu | |
| NM_001293104.2:c.1355C>T | NP_001280033.1:p.Ser452Leu | |
| NM_001293105.2:c.1268C>T | NP_001280034.1:p.Ser423Leu | |
| NR_120531.2:n.1870C>T |