Linked Data
dbSNP Id:
rs1339384407
gnomAD v2:
7-65426034-C-T
gnomAD v3:
7-65961047-C-T
gnomAD v4:
7-65961047-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961047C>T , CM000669.2:g.65961047C>T | GRCh38 |
| NC_000007.13:g.65426034C>T , CM000669.1:g.65426034C>T | GRCh37 |
| NC_000007.12:g.65063469C>T | NCBI36 |
| NG_016197.1:g.26268G>A | |
| NG_051954.1:g.92949C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1806G>A MANE Select | ENSP00000302728.4:p.Leu602= | |
| ENST00000304895.8:c.1806G>A | ENSP00000302728.4:p.Leu602= | |
| ENST00000421103.5:c.1368G>A | ENSP00000391390.1:p.Leu456= | |
| ENST00000430730.5:c.*1073G>A | ENSP00000411859.1:n.*1073G>A | |
| ENST00000447929.5:c.*1186G>A | ENSP00000411262.1:n.*1186G>A | |
| ENST00000466883.5:n.2196G>A | ||
| NM_000181.3:c.1806G>A | NP_000172.2:p.Leu602= | |
| NM_001284290.1:c.1368G>A | NP_001271219.1:p.Leu456= | |
| NM_001293104.1:c.1236G>A | NP_001280033.1:p.Leu412= | |
| NM_001293105.1:c.1149G>A | NP_001280034.1:p.Leu383= | |
| NR_120531.1:n.1852G>A | ||
| XM_005250297.3:c.1653G>A | XP_005250354.1:p.Leu551= | |
| XM_011516113.1:c.1305G>A | XP_011514415.1:p.Leu435= | |
| XM_011516114.1:c.1134G>A | XP_011514416.1:p.Leu378= | |
| XM_005250297.4:c.1653G>A | XP_005250354.1:p.Leu551= | |
| XM_011516114.2:c.1134G>A | XP_011514416.1:p.Leu378= | |
| XM_017012091.1:c.1152G>A | XP_016867580.1:p.Leu384= | |
| XM_017012092.1:c.1083G>A | XP_016867581.1:p.Leu361= | |
| XM_017012093.2:c.981G>A | XP_016867582.1:p.Leu327= | |
| XR_001744658.2:n.1613G>A | ||
| XR_001744659.2:n.1726G>A | ||
| XR_001744660.2:n.1658G>A | ||
| XR_001744661.2:n.1573G>A | ||
| XR_927461.3:n.1811G>A | ||
| NM_000181.4:c.1806G>A MANE Select | NP_000172.2:p.Leu602= | |
| NM_001284290.2:c.1368G>A | NP_001271219.1:p.Leu456= | |
| NM_001293104.2:c.1236G>A | NP_001280033.1:p.Leu412= | |
| NM_001293105.2:c.1149G>A | NP_001280034.1:p.Leu383= | |
| NR_120531.2:n.1751G>A |