Linked Data
ClinVar Variation Id:
936585
ClinVar RCV Id:
RCV001205414
dbSNP Id:
rs1236992554
gnomAD v4:
7-65960973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960973C>T , CM000669.2:g.65960973C>T | GRCh38 |
| NC_000007.13:g.65425960C>T , CM000669.1:g.65425960C>T | GRCh37 |
| NC_000007.12:g.65063395C>T | NCBI36 |
| NG_016197.1:g.26342G>A | |
| NG_051954.1:g.92875C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1880G>A MANE Select | ENSP00000302728.4:p.Trp627Ter | |
| ENST00000304895.8:c.1880G>A | ENSP00000302728.4:p.Trp627Ter | |
| ENST00000421103.5:c.1442G>A | ENSP00000391390.1:p.Trp481Ter | |
| ENST00000430730.5:c.*1147G>A | ENSP00000411859.1:n.*1147G>A | |
| ENST00000447929.5:c.*1260G>A | ENSP00000411262.1:n.*1260G>A | |
| ENST00000466883.5:n.2270G>A | ||
| NM_000181.3:c.1880G>A | NP_000172.2:p.Trp627Ter | |
| NM_001284290.1:c.1442G>A | NP_001271219.1:p.Trp481Ter | |
| NM_001293104.1:c.1310G>A | NP_001280033.1:p.Trp437Ter | |
| NM_001293105.1:c.1223G>A | NP_001280034.1:p.Trp408Ter | |
| NR_120531.1:n.1926G>A | ||
| XM_005250297.3:c.1727G>A | XP_005250354.1:p.Trp576Ter | |
| XM_011516113.1:c.1379G>A | XP_011514415.1:p.Trp460Ter | |
| XM_011516114.1:c.1208G>A | XP_011514416.1:p.Trp403Ter | |
| XM_005250297.4:c.1727G>A | XP_005250354.1:p.Trp576Ter | |
| XM_011516114.2:c.1208G>A | XP_011514416.1:p.Trp403Ter | |
| XM_017012091.1:c.1226G>A | XP_016867580.1:p.Trp409Ter | |
| XM_017012092.1:c.1157G>A | XP_016867581.1:p.Trp386Ter | |
| XM_017012093.2:c.1055G>A | XP_016867582.1:p.Trp352Ter | |
| XR_001744658.2:n.1687G>A | ||
| XR_001744659.2:n.1800G>A | ||
| XR_001744660.2:n.1732G>A | ||
| XR_001744661.2:n.1647G>A | ||
| XR_927461.3:n.1885G>A | ||
| NM_000181.4:c.1880G>A MANE Select | NP_000172.2:p.Trp627Ter | |
| NM_001284290.2:c.1442G>A | NP_001271219.1:p.Trp481Ter | |
| NM_001293104.2:c.1310G>A | NP_001280033.1:p.Trp437Ter | |
| NM_001293105.2:c.1223G>A | NP_001280034.1:p.Trp408Ter | |
| NR_120531.2:n.1825G>A |