Linked Data
ClinVar Variation Id:
1331789
ClinVar RCV Id:
RCV001804305
dbSNP Id:
rs2140294813
MyVariant Identifiers:
chr15:g.67457637G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67165299G>A , CM000677.2:g.67165299G>A | GRCh38 |
| NC_000015.9:g.67457637G>A , CM000677.1:g.67457637G>A | GRCh37 |
| NC_000015.8:g.65244691G>A | NCBI36 |
| NG_011990.1:g.104443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558739.2:c.132G>A | ENSP00000453684.2:p.Glu44= | |
| ENST00000559460.6:c.132G>A | ENSP00000453082.2:p.Glu44= | |
| ENST00000560424.2:c.447G>A | ENSP00000455540.2:p.Glu149= | |
| ENST00000327367.9:c.447G>A MANE Select | ENSP00000332973.4:p.Glu149= | |
| ENST00000679624.1:c.132G>A | ENSP00000505445.1:p.Glu44= | |
| ENST00000681239.1:c.132G>A | ENSP00000505641.1:p.Glu44= | |
| ENST00000327367.8:c.447G>A | ENSP00000332973.4:p.Glu149= | |
| ENST00000439724.7:c.315G>A | ENSP00000401133.3:p.Glu105= | |
| ENST00000540846.6:c.132G>A | ENSP00000437757.2:p.Glu44= | |
| ENST00000558739.1:c.132G>A | ENSP00000453684.1:p.Glu44= | |
| ENST00000558894.5:c.132G>A | ENSP00000458060.1:p.Glu44= | |
| ENST00000559460.5:c.132G>A | ENSP00000453082.1:p.Glu44= | |
| ENST00000559937.1:n.297G>A | ||
| ENST00000560175.5:c.132G>A | ENSP00000455095.1:p.Glu44= | |
| NM_001145102.1:c.132G>A | NP_001138574.1:p.Glu44= | |
| NM_001145103.1:c.315G>A | NP_001138575.1:p.Glu105= | |
| NM_005902.3:c.447G>A | NP_005893.1:p.Glu149= | |
| XM_011521559.1:c.400+211G>A | XP_011519861.1:n.400+211G>A | |
| XM_011521560.1:c.300G>A | XP_011519862.1:p.Glu100= | |
| XM_011521559.3:c.400+211G>A | XP_011519861.1:n.400+211G>A | |
| NM_005902.4:c.447G>A MANE Select | NP_005893.1:p.Glu149= | |
| NM_001145102.2:c.132G>A | NP_001138574.1:p.Glu44= | |
| NM_001145103.2:c.315G>A | NP_001138575.1:p.Glu105= |