Linked Data
dbSNP Id:
rs1790459649
gnomAD v2:
7-65426050-G-A
gnomAD v3:
7-65961063-G-A
gnomAD v4:
7-65961063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961063G>A , CM000669.2:g.65961063G>A | GRCh38 |
| NC_000007.13:g.65426050G>A , CM000669.1:g.65426050G>A | GRCh37 |
| NC_000007.12:g.65063485G>A | NCBI36 |
| NG_016197.1:g.26252C>T | |
| NG_051954.1:g.92965G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1790C>T MANE Select | ENSP00000302728.4:p.Ser597Leu | |
| ENST00000304895.8:c.1790C>T | ENSP00000302728.4:p.Ser597Leu | |
| ENST00000421103.5:c.1352C>T | ENSP00000391390.1:p.Ser451Leu | |
| ENST00000430730.5:c.*1057C>T | ENSP00000411859.1:n.*1057C>T | |
| ENST00000447929.5:c.*1170C>T | ENSP00000411262.1:n.*1170C>T | |
| ENST00000466883.5:n.2180C>T | ||
| NM_000181.3:c.1790C>T | NP_000172.2:p.Ser597Leu | |
| NM_001284290.1:c.1352C>T | NP_001271219.1:p.Ser451Leu | |
| NM_001293104.1:c.1220C>T | NP_001280033.1:p.Ser407Leu | |
| NM_001293105.1:c.1133C>T | NP_001280034.1:p.Ser378Leu | |
| NR_120531.1:n.1836C>T | ||
| XM_005250297.3:c.1637C>T | XP_005250354.1:p.Ser546Leu | |
| XM_011516113.1:c.1289C>T | XP_011514415.1:p.Ser430Leu | |
| XM_011516114.1:c.1118C>T | XP_011514416.1:p.Ser373Leu | |
| XM_005250297.4:c.1637C>T | XP_005250354.1:p.Ser546Leu | |
| XM_011516114.2:c.1118C>T | XP_011514416.1:p.Ser373Leu | |
| XM_017012091.1:c.1136C>T | XP_016867580.1:p.Ser379Leu | |
| XM_017012092.1:c.1067C>T | XP_016867581.1:p.Ser356Leu | |
| XM_017012093.2:c.965C>T | XP_016867582.1:p.Ser322Leu | |
| XR_001744658.2:n.1597C>T | ||
| XR_001744659.2:n.1710C>T | ||
| XR_001744660.2:n.1642C>T | ||
| XR_001744661.2:n.1557C>T | ||
| XR_927461.3:n.1795C>T | ||
| NM_000181.4:c.1790C>T MANE Select | NP_000172.2:p.Ser597Leu | |
| NM_001284290.2:c.1352C>T | NP_001271219.1:p.Ser451Leu | |
| NM_001293104.2:c.1220C>T | NP_001280033.1:p.Ser407Leu | |
| NM_001293105.2:c.1133C>T | NP_001280034.1:p.Ser378Leu | |
| NR_120531.2:n.1735C>T |