Linked Data
ClinVar Variation Id:
459937
dbSNP Id:
rs142646074
ExAC:
13:101167798 G / C
gnomAD v2:
13-101167798-G-C
gnomAD v3:
13-100515544-G-C
gnomAD v4:
13-100515544-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100515544G>C , CM000675.2:g.100515544G>C | GRCh38 |
| NC_000013.10:g.101167798G>C , CM000675.1:g.101167798G>C | GRCh37 |
| NC_000013.9:g.99965799G>C | NCBI36 |
| NG_008768.1:g.431462G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.2017G>C MANE Select | ENSP00000365462.1:p.Val673Leu | |
| ENST00000636366.1:c.1215G>C | ||
| ENST00000636475.1:c.1532G>C | ||
| ENST00000637657.1:c.1677G>C | ||
| ENST00000647303.1:c.*1501G>C | ENSP00000495663.1:n.*1501G>C | |
| ENST00000376279.7:c.1900-12131G>C | ENSP00000365456.3:n.1900-12131G>C | |
| ENST00000376285.5:c.2017G>C | ENSP00000365462.1:p.Val673Leu | |
| ENST00000376286.8:c.1939G>C | ENSP00000365463.4:p.Val647Leu | |
| ENST00000428969.1:c.118G>C | ENSP00000399413.1:p.Val40Leu | |
| ENST00000458283.5:c.257-12131G>C | ||
| NM_000282.3:c.2017G>C | NP_000273.2:p.Val673Leu | |
| NM_001127692.2:c.1939G>C | NP_001121164.1:p.Val647Leu | |
| NM_001178004.1:c.1900-12131G>C | NP_001171475.1:n.1900-12131G>C | |
| XR_931615.1:n.1898-12131G>C | ||
| NM_001352605.1:c.1963G>C | NP_001339534.1:p.Val655Leu | |
| NM_001352606.1:c.1873G>C | NP_001339535.1:p.Val625Leu | |
| NM_001352607.1:c.1822-12131G>C | NP_001339536.1:n.1822-12131G>C | |
| NM_001352608.1:c.1795G>C | NP_001339537.1:p.Val599Leu | |
| NM_001352610.1:c.1072G>C | NP_001339539.1:p.Val358Leu | |
| NM_001352611.1:c.1018G>C | NP_001339540.1:p.Val340Leu | |
| NM_001352612.1:c.928G>C | NP_001339541.1:p.Val310Leu | |
| NR_148027.1:n.2090-12131G>C | ||
| NR_148028.1:n.2104G>C | ||
| NR_148029.1:n.2026G>C | ||
| NR_148030.1:n.2207G>C | ||
| NR_148031.1:n.2020G>C | ||
| XM_017020609.1:c.1918G>C | XP_016876098.1:p.Val640Leu | |
| XM_017020612.1:c.*50G>C | XP_016876101.1:n.*50G>C | |
| XM_017020613.1:c.1979-12131G>C | XP_016876102.1:n.1979-12131G>C | |
| XR_001749567.1:n.2197G>C | ||
| XR_001749568.1:n.2284G>C | ||
| XR_001749569.1:n.2167-12131G>C | ||
| XR_001749574.1:n.2053G>C | ||
| XR_001749576.1:n.1754G>C | ||
| XR_001749577.1:n.1651G>C | ||
| NM_000282.4:c.2017G>C MANE Select | NP_000273.2:p.Val673Leu | |
| NM_001352605.2:c.1963G>C | NP_001339534.1:p.Val655Leu | |
| NM_001352606.2:c.1873G>C | NP_001339535.1:p.Val625Leu | |
| NM_001352607.2:c.1822-12131G>C | NP_001339536.1:n.1822-12131G>C | |
| NM_001352608.2:c.1795G>C | NP_001339537.1:p.Val599Leu | |
| NM_001352610.2:c.1072G>C | NP_001339539.1:p.Val358Leu | |
| NM_001352611.2:c.1018G>C | NP_001339540.1:p.Val340Leu | |
| NM_001352612.2:c.928G>C | NP_001339541.1:p.Val310Leu | |
| NR_148027.2:n.2012-12131G>C | ||
| NR_148028.2:n.2026G>C | ||
| NR_148029.2:n.1948G>C | ||
| NR_148030.2:n.2129G>C | ||
| NR_148031.2:n.1942G>C | ||
| NM_001127692.3:c.1939G>C | NP_001121164.1:p.Val647Leu | |
| NM_001178004.2:c.1900-12131G>C | NP_001171475.1:n.1900-12131G>C |