Linked Data
ClinVar Variation Id:
2898024
ClinVar RCV Id:
RCV003601054
dbSNP Id:
rs1790456990
gnomAD v4:
7-65961049-G-A
MyVariant Identifiers:
chr7:g.65426036G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961049G>A , CM000669.2:g.65961049G>A | GRCh38 |
| NC_000007.13:g.65426036G>A , CM000669.1:g.65426036G>A | GRCh37 |
| NC_000007.12:g.65063471G>A | NCBI36 |
| NG_016197.1:g.26266C>T | |
| NG_051954.1:g.92951G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1804C>T MANE Select | ENSP00000302728.4:p.Leu602= | |
| ENST00000304895.8:c.1804C>T | ENSP00000302728.4:p.Leu602= | |
| ENST00000421103.5:c.1366C>T | ENSP00000391390.1:p.Leu456= | |
| ENST00000430730.5:c.*1071C>T | ENSP00000411859.1:n.*1071C>T | |
| ENST00000447929.5:c.*1184C>T | ENSP00000411262.1:n.*1184C>T | |
| ENST00000466883.5:n.2194C>T | ||
| NM_000181.3:c.1804C>T | NP_000172.2:p.Leu602= | |
| NM_001284290.1:c.1366C>T | NP_001271219.1:p.Leu456= | |
| NM_001293104.1:c.1234C>T | NP_001280033.1:p.Leu412= | |
| NM_001293105.1:c.1147C>T | NP_001280034.1:p.Leu383= | |
| NR_120531.1:n.1850C>T | ||
| XM_005250297.3:c.1651C>T | XP_005250354.1:p.Leu551= | |
| XM_011516113.1:c.1303C>T | XP_011514415.1:p.Leu435= | |
| XM_011516114.1:c.1132C>T | XP_011514416.1:p.Leu378= | |
| XM_005250297.4:c.1651C>T | XP_005250354.1:p.Leu551= | |
| XM_011516114.2:c.1132C>T | XP_011514416.1:p.Leu378= | |
| XM_017012091.1:c.1150C>T | XP_016867580.1:p.Leu384= | |
| XM_017012092.1:c.1081C>T | XP_016867581.1:p.Leu361= | |
| XM_017012093.2:c.979C>T | XP_016867582.1:p.Leu327= | |
| XR_001744658.2:n.1611C>T | ||
| XR_001744659.2:n.1724C>T | ||
| XR_001744660.2:n.1656C>T | ||
| XR_001744661.2:n.1571C>T | ||
| XR_927461.3:n.1809C>T | ||
| NM_000181.4:c.1804C>T MANE Select | NP_000172.2:p.Leu602= | |
| NM_001284290.2:c.1366C>T | NP_001271219.1:p.Leu456= | |
| NM_001293104.2:c.1234C>T | NP_001280033.1:p.Leu412= | |
| NM_001293105.2:c.1147C>T | NP_001280034.1:p.Leu383= | |
| NR_120531.2:n.1749C>T |