Linked Data
ClinVar Variation Id:
1702720
ClinVar RCV Id:
RCV002279038
dbSNP Id:
rs1957515922
gnomAD v3:
13-51944234-T-G
gnomAD v4:
13-51944234-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944234T>G , CM000675.2:g.51944234T>G | GRCh38 |
| NC_000013.10:g.52518370T>G , CM000675.1:g.52518370T>G | GRCh37 |
| NC_000013.9:g.51416371T>G | NCBI36 |
| NG_008806.1:g.72261A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*894-1680A>C | ENSP00000489512.2:n.*894-1680A>C | |
| ENST00000673864.2:c.*1862A>C | ENSP00000501045.2:n.*1862A>C | |
| ENST00000674147.2:c.2497A>C | ENSP00000500964.2:p.Met833Leu | |
| ENST00000242839.10:c.3118A>C MANE Select | ENSP00000242839.5:p.Met1040Leu | |
| ENST00000344297.9:c.2497A>C | ENSP00000342559.5:p.Met833Leu | |
| ENST00000400366.6:c.2785A>C | ENSP00000383217.3:p.Met929Leu | |
| ENST00000448424.7:c.2866A>C | ENSP00000416738.3:p.Met956Leu | |
| ENST00000673772.1:c.2884A>C | ENSP00000501168.1:p.Met962Leu | |
| ENST00000673867.1:n.3257A>C | ||
| ENST00000674126.1:n.3481A>C | ||
| ENST00000674147.1:c.2053A>C | ENSP00000500964.1:p.Met685Leu | |
| ENST00000242839.8:c.3118A>C | ENSP00000242839.4:p.Met1040Leu | |
| ENST00000344297.8:c.2497A>C | ENSP00000342559.5:p.Met833Leu | |
| ENST00000400366.5:c.2785A>C | ENSP00000383217.3:p.Met929Leu | |
| ENST00000400370.8:c.1828A>C | ENSP00000383221.3:p.Met610Leu | |
| ENST00000418097.7:c.2923A>C | ENSP00000393343.2:p.Met975Leu | |
| ENST00000448424.6:c.2884A>C | ENSP00000416738.2:p.Met962Leu | |
| ENST00000466629.1:n.338A>C | ||
| ENST00000634296.1:c.1022-1680A>C | ||
| ENST00000634308.1:c.*219A>C | ENSP00000489234.1:n.*219A>C | |
| ENST00000634620.1:n.3862A>C | ||
| ENST00000634810.1:n.2463A>C | ||
| ENST00000634844.1:c.2974A>C | ENSP00000489398.1:p.Met992Leu | |
| ENST00000635406.1:n.464A>C | ||
| NM_000053.3:c.3118A>C | NP_000044.2:p.Met1040Leu | |
| NM_001005918.2:c.2497A>C | NP_001005918.1:p.Met833Leu | |
| NM_001243182.1:c.2785A>C | NP_001230111.1:p.Met929Leu | |
| XM_005266423.2:c.3022A>C | XP_005266480.1:p.Met1008Leu | |
| XM_005266424.3:c.3022A>C | XP_005266481.1:p.Met1008Leu | |
| XM_005266427.2:c.2884A>C | XP_005266484.1:p.Met962Leu | |
| XM_005266428.1:c.2866A>C | XP_005266485.1:p.Met956Leu | |
| XM_005266430.3:c.3118A>C | XP_005266487.1:p.Met1040Leu | |
| XM_005266431.2:c.3082A>C | XP_005266488.1:p.Met1028Leu | |
| XM_005266432.2:c.2632A>C | XP_005266489.1:p.Met878Leu | |
| XM_006719837.2:c.3022A>C | XP_006719900.1:p.Met1008Leu | |
| XM_006719838.1:c.934A>C | XP_006719901.1:p.Met312Leu | |
| XM_006719839.1:c.877-1680A>C | XP_006719902.1:n.877-1680A>C | |
| XM_011535117.1:c.3022A>C | XP_011533419.1:p.Met1008Leu | |
| XM_011535118.1:c.2983A>C | XP_011533420.1:p.Met995Leu | |
| XM_011535119.1:c.3061-1680A>C | XP_011533421.1:n.3061-1680A>C | |
| XM_011535120.1:c.2704A>C | XP_011533422.1:p.Met902Leu | |
| XM_011535121.1:c.2731-1680A>C | XP_011533423.1:n.2731-1680A>C | |
| XM_011535122.1:c.1786A>C | XP_011533424.1:p.Met596Leu | |
| XR_941601.1:n.3337A>C | ||
| XR_941602.1:n.3337A>C | ||
| XR_941603.1:n.3337A>C | ||
| XR_941604.1:n.3337A>C | ||
| NM_001330578.1:c.2884A>C | NP_001317507.1:p.Met962Leu | |
| NM_001330579.1:c.2866A>C | NP_001317508.1:p.Met956Leu | |
| XM_005266424.4:c.3022A>C | XP_005266481.1:p.Met1008Leu | |
| XM_005266430.4:c.3118A>C | XP_005266487.1:p.Met1040Leu | |
| XM_005266431.4:c.3082A>C | XP_005266488.1:p.Met1028Leu | |
| XM_006719837.3:c.3022A>C | XP_006719900.1:p.Met1008Leu | |
| XM_011535117.3:c.3022A>C | XP_011533419.1:p.Met1008Leu | |
| XM_017020627.1:c.3022A>C | XP_016876116.1:p.Met1008Leu | |
| NM_000053.4:c.3118A>C MANE Select | NP_000044.2:p.Met1040Leu | |
| NM_001005918.3:c.2497A>C | NP_001005918.1:p.Met833Leu | |
| NM_001330579.2:c.2866A>C | NP_001317508.1:p.Met956Leu | |
| NM_001243182.2:c.2785A>C | NP_001230111.1:p.Met929Leu | |
| NM_001330578.2:c.2884A>C | NP_001317507.1:p.Met962Leu |