Linked Data
ClinVar Variation Id:
40692
ClinVar RCV Id:
RCV000038527
RCV000149843
RCV000852770
RCV001141306
RCV001572796
RCV002415452
RCV001813292
dbSNP Id:
rs56219475
ExAC:
2:39241107 G / A
gnomAD v2:
2-39241107-G-A
gnomAD v3:
2-39013966-G-A
gnomAD v4:
2-39013966-G-A
ERepo:
CA136088/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39013966G>A , CM000664.2:g.39013966G>A | GRCh38 |
| NC_000002.11:g.39241107G>A , CM000664.1:g.39241107G>A | GRCh37 |
| NC_000002.10:g.39094611G>A | NCBI36 |
| NG_007530.1:g.111498C>T , LRG_754:g.111498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.731C>T | ENSP00000509424.1:p.Pro244Leu | |
| ENST00000688043.1:n.2185C>T | ||
| ENST00000689668.1:n.1971C>T | ||
| ENST00000690876.1:c.1853C>T | ENSP00000508955.1:p.Pro618Leu | |
| ENST00000691229.1:c.1853C>T | ENSP00000510437.1:p.Pro618Leu | |
| ENST00000692089.1:c.1853C>T | ENSP00000508626.1:p.Pro618Leu | |
| ENST00000692620.1:c.731C>T | ENSP00000509311.1:p.Pro244Leu | |
| ENST00000402219.8:c.1964C>T MANE Select | ENSP00000384675.2:p.Pro655Leu | |
| ENST00000395038.6:c.1964C>T | ENSP00000378479.2:p.Pro655Leu | |
| ENST00000402219.6:c.1964C>T | ENSP00000384675.2:p.Pro655Leu | |
| ENST00000426016.5:c.1964C>T | ENSP00000387784.1:p.Pro655Leu | |
| NM_005633.3:c.1964C>T , LRG_754t1:c.1964C>T | NP_005624.2:p.Pro655Leu | |
| XM_005264515.3:c.1964C>T | XP_005264572.1:p.Pro655Leu | |
| XM_011533060.1:c.2057C>T | XP_011531362.1:p.Pro686Leu | |
| XM_011533061.1:c.2057C>T | XP_011531363.1:p.Pro686Leu | |
| XM_011533062.1:c.1943C>T | XP_011531364.1:p.Pro648Leu | |
| XM_011533063.1:c.1940C>T | XP_011531365.1:p.Pro647Leu | |
| XM_011533064.1:c.1793C>T | XP_011531366.1:p.Pro598Leu | |
| XM_011533065.1:c.2057C>T | XP_011531367.1:p.Pro686Leu | |
| XM_011533066.1:c.899C>T | XP_011531368.1:p.Pro300Leu | |
| XM_005264515.4:c.1964C>T | XP_005264572.1:p.Pro655Leu | |
| XM_011533062.2:c.1943C>T | XP_011531364.1:p.Pro648Leu | |
| XM_011533064.2:c.1793C>T | XP_011531366.1:p.Pro598Leu | |
| NM_001382394.1:c.1943C>T | NP_001369323.1:p.Pro648Leu | |
| NM_001382395.1:c.1964C>T | NP_001369324.1:p.Pro655Leu | |
| NM_005633.4:c.1964C>T MANE Select | NP_005624.2:p.Pro655Leu |