Linked Data
ClinVar Variation Id:
336017
dbSNP Id:
rs779326746
ExAC:
2:39216458 G / A
gnomAD v2:
2-39216458-G-A
gnomAD v3:
2-38989317-G-A
gnomAD v4:
2-38989317-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38989317G>A , CM000664.2:g.38989317G>A | GRCh38 |
| NC_000002.11:g.39216458G>A , CM000664.1:g.39216458G>A | GRCh37 |
| NC_000002.10:g.39069962G>A | NCBI36 |
| NG_007530.1:g.136147C>T , LRG_754:g.136147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2114-3C>T | ENSP00000509424.1:n.2114-3C>T | |
| ENST00000686849.1:n.135C>T | ||
| ENST00000690876.1:c.*653-3C>T | ENSP00000508955.1:n.*653-3C>T | |
| ENST00000692089.1:c.3236-3C>T | ENSP00000508626.1:n.3236-3C>T | |
| ENST00000692227.1:c.1043-1726C>T | ENSP00000509138.1:n.1043-1726C>T | |
| ENST00000402219.8:c.3347-3C>T MANE Select | ENSP00000384675.2:n.3347-3C>T | |
| ENST00000395038.6:c.3347-1726C>T | ENSP00000378479.2:n.3347-1726C>T | |
| ENST00000402219.6:c.3347-3C>T | ENSP00000384675.2:n.3347-3C>T | |
| ENST00000426016.5:c.3347-3C>T | ENSP00000387784.1:n.3347-3C>T | |
| NM_005633.3:c.3347-3C>T , LRG_754t1:c.3347-3C>T | NP_005624.2:n.3347-3C>T | |
| XM_005264515.3:c.3347-1726C>T | XP_005264572.1:n.3347-1726C>T | |
| XM_011533060.1:c.3440-3C>T | XP_011531362.1:n.3440-3C>T | |
| XM_011533061.1:c.3440-1726C>T | XP_011531363.1:n.3440-1726C>T | |
| XM_011533062.1:c.3326-3C>T | XP_011531364.1:n.3326-3C>T | |
| XM_011533063.1:c.3323-3C>T | XP_011531365.1:n.3323-3C>T | |
| XM_011533064.1:c.3176-3C>T | XP_011531366.1:n.3176-3C>T | |
| XM_011533065.1:c.3440-3C>T | XP_011531367.1:n.3440-3C>T | |
| XM_011533066.1:c.2282-3C>T | XP_011531368.1:n.2282-3C>T | |
| XM_005264515.4:c.3347-1726C>T | XP_005264572.1:n.3347-1726C>T | |
| XM_011533062.2:c.3326-3C>T | XP_011531364.1:n.3326-3C>T | |
| XM_011533064.2:c.3176-3C>T | XP_011531366.1:n.3176-3C>T | |
| NM_001382394.1:c.3326-3C>T | NP_001369323.1:n.3326-3C>T | |
| NM_001382395.1:c.3347-1726C>T | NP_001369324.1:n.3347-1726C>T | |
| NM_005633.4:c.3347-3C>T MANE Select | NP_005624.2:n.3347-3C>T |