Linked Data
ClinVar Variation Id:
40640
dbSNP Id:
rs139592595
ExAC:
2:39347491 G / A
gnomAD v2:
2-39347491-G-A
gnomAD v3:
2-39120350-G-A
gnomAD v4:
2-39120350-G-A
ERepo:
CA181527/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39120350G>A , CM000664.2:g.39120350G>A | GRCh38 |
| NC_000002.11:g.39347491G>A , CM000664.1:g.39347491G>A | GRCh37 |
| NC_000002.10:g.39200995G>A | NCBI36 |
| NG_007530.1:g.5114C>T , LRG_754:g.5114C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.100C>T | ||
| ENST00000689668.1:n.80C>T | ||
| ENST00000690679.1:c.187+3809C>T | ||
| ENST00000690876.1:c.73C>T | ENSP00000508955.1:p.Pro25Ser | |
| ENST00000691229.1:c.73C>T | ENSP00000510437.1:p.Pro25Ser | |
| ENST00000692089.1:c.73C>T | ENSP00000508626.1:p.Pro25Ser | |
| ENST00000402219.8:c.73C>T MANE Select | ENSP00000384675.2:p.Pro25Ser | |
| ENST00000395038.6:c.73C>T | ENSP00000378479.2:p.Pro25Ser | |
| ENST00000402219.6:c.73C>T | ENSP00000384675.2:p.Pro25Ser | |
| ENST00000426016.5:c.73C>T | ENSP00000387784.1:p.Pro25Ser | |
| ENST00000451331.1:c.-85+3809C>T | ENSP00000393899.1:n.-85+3809C>T | |
| NM_005633.3:c.73C>T , LRG_754t1:c.73C>T | NP_005624.2:p.Pro25Ser | |
| XM_005264515.3:c.73C>T | XP_005264572.1:p.Pro25Ser | |
| XM_011533062.1:c.66+4314C>T | XP_011531364.1:n.66+4314C>T | |
| XM_005264515.4:c.73C>T | XP_005264572.1:p.Pro25Ser | |
| XM_011533062.2:c.66+4314C>T | XP_011531364.1:n.66+4314C>T | |
| NM_001382394.1:c.66+4314C>T | NP_001369323.1:n.66+4314C>T | |
| NM_001382395.1:c.73C>T | NP_001369324.1:p.Pro25Ser | |
| NM_005633.4:c.73C>T MANE Select | NP_005624.2:p.Pro25Ser |