Linked Data
ClinVar Variation Id:
218253
ClinVar RCV Id:
RCV000236842
dbSNP Id:
rs774949844
ExAC:
13:101179950 T / C
gnomAD v2:
13-101179950-T-C
gnomAD v3:
13-100527696-T-C
gnomAD v4:
13-100527696-T-C
PubMed:
PMID:27227689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100527696T>C , CM000675.2:g.100527696T>C | GRCh38 |
| NC_000013.10:g.101179950T>C , CM000675.1:g.101179950T>C | GRCh37 |
| NC_000013.9:g.99977951T>C | NCBI36 |
| NG_008768.1:g.443614T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.2062T>C MANE Select | ENSP00000365462.1:p.Cys688Arg | |
| ENST00000636366.1:c.1260T>C | ||
| ENST00000636475.1:c.1577T>C | ||
| ENST00000637657.1:c.1722T>C | ||
| ENST00000647303.1:c.*1546T>C | ENSP00000495663.1:n.*1546T>C | |
| ENST00000376279.7:c.1921T>C | ENSP00000365456.3:p.Cys641Arg | |
| ENST00000376285.5:c.2062T>C | ENSP00000365462.1:p.Cys688Arg | |
| ENST00000376286.8:c.1984T>C | ENSP00000365463.4:p.Cys662Arg | |
| ENST00000428969.1:c.211T>C | ENSP00000399413.1:p.Cys71Arg | |
| ENST00000458283.5:c.278T>C | ||
| NM_000282.3:c.2062T>C | NP_000273.2:p.Cys688Arg | |
| NM_001127692.2:c.1984T>C | NP_001121164.1:p.Cys662Arg | |
| NM_001178004.1:c.1921T>C | NP_001171475.1:p.Cys641Arg | |
| XR_931615.1:n.1919T>C | ||
| NM_001352605.1:c.2008T>C | NP_001339534.1:p.Cys670Arg | |
| NM_001352606.1:c.1918T>C | NP_001339535.1:p.Cys640Arg | |
| NM_001352607.1:c.1843T>C | NP_001339536.1:p.Cys615Arg | |
| NM_001352608.1:c.1840T>C | NP_001339537.1:p.Cys614Arg | |
| NM_001352610.1:c.1117T>C | NP_001339539.1:p.Cys373Arg | |
| NM_001352611.1:c.1063T>C | NP_001339540.1:p.Cys355Arg | |
| NM_001352612.1:c.973T>C | NP_001339541.1:p.Cys325Arg | |
| NR_148027.1:n.2111T>C | ||
| NR_148028.1:n.2149T>C | ||
| NR_148029.1:n.2071T>C | ||
| NR_148030.1:n.2252T>C | ||
| NR_148031.1:n.2065T>C | ||
| XM_017020609.1:c.1963T>C | XP_016876098.1:p.Cys655Arg | |
| XM_017020613.1:c.2000T>C | XP_016876102.1:p.Leu667Ser | |
| XR_001749567.1:n.2242T>C | ||
| XR_001749568.1:n.2329T>C | ||
| XR_001749569.1:n.2188T>C | ||
| XR_001749574.1:n.2098T>C | ||
| XR_001749576.1:n.1799T>C | ||
| XR_001749577.1:n.1696T>C | ||
| NM_000282.4:c.2062T>C MANE Select | NP_000273.2:p.Cys688Arg | |
| NM_001352605.2:c.2008T>C | NP_001339534.1:p.Cys670Arg | |
| NM_001352606.2:c.1918T>C | NP_001339535.1:p.Cys640Arg | |
| NM_001352607.2:c.1843T>C | NP_001339536.1:p.Cys615Arg | |
| NM_001352608.2:c.1840T>C | NP_001339537.1:p.Cys614Arg | |
| NM_001352610.2:c.1117T>C | NP_001339539.1:p.Cys373Arg | |
| NM_001352611.2:c.1063T>C | NP_001339540.1:p.Cys355Arg | |
| NM_001352612.2:c.973T>C | NP_001339541.1:p.Cys325Arg | |
| NR_148027.2:n.2033T>C | ||
| NR_148028.2:n.2071T>C | ||
| NR_148029.2:n.1993T>C | ||
| NR_148030.2:n.2174T>C | ||
| NR_148031.2:n.1987T>C | ||
| NM_001127692.3:c.1984T>C | NP_001121164.1:p.Cys662Arg | |
| NM_001178004.2:c.1921T>C | NP_001171475.1:p.Cys641Arg |