Linked Data
ClinVar Variation Id:
40685
ClinVar RCV Id:
RCV000157694
RCV001813289
RCV002054545
RCV002467516
RCV001192934
RCV002399363
RCV002467517
dbSNP Id:
rs376314461
ExAC:
2:39249901 T / G
gnomAD v2:
2-39249901-T-G
gnomAD v3:
2-39022760-T-G
gnomAD v4:
2-39022760-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022760T>G , CM000664.2:g.39022760T>G | GRCh38 |
| NC_000002.11:g.39249901T>G , CM000664.1:g.39249901T>G | GRCh37 |
| NC_000002.10:g.39103405T>G | NCBI36 |
| NG_007530.1:g.102704A>C , LRG_754:g.102704A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1548A>C | ||
| ENST00000685279.1:c.435A>C | ENSP00000509424.1:p.Val145= | |
| ENST00000688043.1:n.1889A>C | ||
| ENST00000689668.1:n.1675A>C | ||
| ENST00000690876.1:c.1557A>C | ENSP00000508955.1:p.Val519= | |
| ENST00000691229.1:c.1557A>C | ENSP00000510437.1:p.Val519= | |
| ENST00000692089.1:c.1557A>C | ENSP00000508626.1:p.Val519= | |
| ENST00000692620.1:c.435A>C | ENSP00000509311.1:p.Val145= | |
| ENST00000402219.8:c.1668A>C MANE Select | ENSP00000384675.2:p.Val556= | |
| ENST00000395038.6:c.1668A>C | ENSP00000378479.2:p.Val556= | |
| ENST00000402219.6:c.1668A>C | ENSP00000384675.2:p.Val556= | |
| ENST00000426016.5:c.1668A>C | ENSP00000387784.1:p.Val556= | |
| NM_005633.3:c.1668A>C , LRG_754t1:c.1668A>C | NP_005624.2:p.Val556= | |
| XM_005264515.3:c.1668A>C | XP_005264572.1:p.Val556= | |
| XM_011533060.1:c.1761A>C | XP_011531362.1:p.Val587= | |
| XM_011533061.1:c.1761A>C | XP_011531363.1:p.Val587= | |
| XM_011533062.1:c.1647A>C | XP_011531364.1:p.Val549= | |
| XM_011533063.1:c.1644A>C | XP_011531365.1:p.Val548= | |
| XM_011533064.1:c.1497A>C | XP_011531366.1:p.Val499= | |
| XM_011533065.1:c.1761A>C | XP_011531367.1:p.Val587= | |
| XM_011533066.1:c.603A>C | XP_011531368.1:p.Val201= | |
| XM_005264515.4:c.1668A>C | XP_005264572.1:p.Val556= | |
| XM_011533062.2:c.1647A>C | XP_011531364.1:p.Val549= | |
| XM_011533064.2:c.1497A>C | XP_011531366.1:p.Val499= | |
| NM_001382394.1:c.1647A>C | NP_001369323.1:p.Val549= | |
| NM_001382395.1:c.1668A>C | NP_001369324.1:p.Val556= | |
| NM_005633.4:c.1668A>C MANE Select | NP_005624.2:p.Val556= |