Linked Data
ClinVar Variation Id:
40660
ClinVar RCV Id:
RCV000038569
RCV000157705
RCV000228572
RCV001261072
RCV001813282
RCV002390135
RCV003944869
dbSNP Id:
rs139290271
ExAC:
2:39278400 A / G
gnomAD v2:
2-39278400-A-G
gnomAD v3:
2-39051259-A-G
gnomAD v4:
2-39051259-A-G
ERepo:
CA136183/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39051259A>G , CM000664.2:g.39051259A>G | GRCh38 |
| NC_000002.11:g.39278400A>G , CM000664.1:g.39278400A>G | GRCh37 |
| NC_000002.10:g.39131904A>G | NCBI36 |
| NG_007530.1:g.74205T>C , LRG_754:g.74205T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.776T>C | ||
| ENST00000472480.2:n.629T>C | ||
| ENST00000685782.1:n.1587T>C | ||
| ENST00000689668.1:n.756T>C | ||
| ENST00000690679.1:c.849T>C | ||
| ENST00000690876.1:c.749T>C | ENSP00000508955.1:p.Val250Ala | |
| ENST00000691229.1:c.749T>C | ENSP00000510437.1:p.Val250Ala | |
| ENST00000692089.1:c.749T>C | ENSP00000508626.1:p.Val250Ala | |
| ENST00000402219.8:c.749T>C MANE Select | ENSP00000384675.2:p.Val250Ala | |
| ENST00000395038.6:c.749T>C | ENSP00000378479.2:p.Val250Ala | |
| ENST00000402219.6:c.749T>C | ENSP00000384675.2:p.Val250Ala | |
| ENST00000426016.5:c.749T>C | ENSP00000387784.1:p.Val250Ala | |
| ENST00000461545.1:n.99T>C | ||
| NM_005633.3:c.749T>C , LRG_754t1:c.749T>C | NP_005624.2:p.Val250Ala | |
| XM_005264515.3:c.749T>C | XP_005264572.1:p.Val250Ala | |
| XM_011533060.1:c.842T>C | XP_011531362.1:p.Val281Ala | |
| XM_011533061.1:c.842T>C | XP_011531363.1:p.Val281Ala | |
| XM_011533062.1:c.728T>C | XP_011531364.1:p.Val243Ala | |
| XM_011533063.1:c.725T>C | XP_011531365.1:p.Val242Ala | |
| XM_011533064.1:c.578T>C | XP_011531366.1:p.Val193Ala | |
| XM_011533065.1:c.842T>C | XP_011531367.1:p.Val281Ala | |
| XM_005264515.4:c.749T>C | XP_005264572.1:p.Val250Ala | |
| XM_011533062.2:c.728T>C | XP_011531364.1:p.Val243Ala | |
| XM_011533064.2:c.578T>C | XP_011531366.1:p.Val193Ala | |
| NM_001382394.1:c.728T>C | NP_001369323.1:p.Val243Ala | |
| NM_001382395.1:c.749T>C | NP_001369324.1:p.Val250Ala | |
| NM_005633.4:c.749T>C MANE Select | NP_005624.2:p.Val250Ala |