Linked Data
ClinVar Variation Id:
159897
dbSNP Id:
rs199747285
ExAC:
15:34553159 C / A
gnomAD v2:
15-34553159-C-A
gnomAD v3:
15-34260958-C-A
gnomAD v4:
15-34260958-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34260958C>A , CM000677.2:g.34260958C>A | GRCh38 |
| NC_000015.9:g.34553159C>A , CM000677.1:g.34553159C>A | GRCh37 |
| NC_000015.8:g.32340451C>A | NCBI36 |
| NG_007951.1:g.82107G>T , LRG_270:g.82107G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354181.8:c.379G>T MANE Select | ENSP00000346112.3:p.Glu127Ter | |
| ENST00000675289.1:n.1161G>T | ||
| ENST00000676379.1:c.379G>T | ENSP00000502539.1:p.Glu127Ter | |
| ENST00000290209.9:c.226G>T | ENSP00000290209.5:p.Glu76Ter | |
| ENST00000354181.7:c.379G>T | ENSP00000346112.3:p.Glu127Ter | |
| ENST00000397702.6:c.202G>T | ENSP00000380814.2:p.Glu68Ter | |
| ENST00000397707.6:c.334G>T | ENSP00000380819.2:p.Glu112Ter | |
| ENST00000458406.6:c.202G>T | ENSP00000387725.2:p.Glu68Ter | |
| ENST00000558589.5:c.352G>T | ENSP00000452776.1:p.Glu118Ter | |
| ENST00000558667.5:c.379G>T | ENSP00000453473.1:p.Glu127Ter | |
| ENST00000559236.5:c.379G>T | ENSP00000452828.1:p.Glu127Ter | |
| ENST00000559523.5:c.202G>T | ENSP00000452904.1:p.Glu68Ter | |
| ENST00000559664.5:c.379G>T | ENSP00000453702.1:p.Glu127Ter | |
| ENST00000560164.5:c.-39G>T | ENSP00000452705.1:n.-39G>T | |
| ENST00000560332.1:c.-39G>T | ENSP00000454037.1:n.-39G>T | |
| ENST00000560611.5:c.379G>T | ENSP00000454168.1:p.Glu127Ter | |
| ENST00000561080.5:c.379G>T | ENSP00000454069.1:p.Glu127Ter | |
| ENST00000561120.5:c.352G>T | ENSP00000452771.1:p.Glu118Ter | |
| NM_001042494.1:c.202G>T | NP_001035959.1:p.Glu68Ter | |
| NM_001042495.1:c.202G>T | NP_001035960.1:p.Glu68Ter | |
| NM_001042496.1:c.352G>T | NP_001035961.1:p.Glu118Ter | |
| NM_001042497.1:c.334G>T | NP_001035962.1:p.Glu112Ter | |
| NM_005135.2:c.226G>T , LRG_270t1:c.226G>T | NP_005126.1:p.Glu76Ter | |
| NM_133647.1:c.379G>T , LRG_270t2:c.379G>T | NP_598408.1:p.Glu127Ter | |
| XM_006720793.2:c.379G>T | XP_006720856.1:p.Glu127Ter | |
| XM_011522267.1:c.379G>T | XP_011520569.1:p.Glu127Ter | |
| XM_011522268.1:c.379G>T | XP_011520570.1:p.Glu127Ter | |
| XM_011522269.1:c.379G>T | XP_011520571.1:p.Glu127Ter | |
| XR_429476.2:n.385G>T | ||
| XR_931960.1:n.385G>T | ||
| XR_931961.1:n.385G>T | ||
| NM_001365088.1:c.379G>T MANE Select | NP_001352017.1:p.Glu127Ter | |
| XM_006720793.4:c.379G>T | XP_006720856.1:p.Glu127Ter | |
| XM_011522269.3:c.379G>T | XP_011520571.1:p.Glu127Ter | |
| XR_931960.3:n.1629G>T | ||
| NM_001042494.2:c.202G>T | NP_001035959.1:p.Glu68Ter | |
| NM_001042495.2:c.202G>T | NP_001035960.1:p.Glu68Ter | |
| NM_001042496.2:c.352G>T | NP_001035961.1:p.Glu118Ter | |
| NM_001042497.2:c.334G>T | NP_001035962.1:p.Glu112Ter | |
| NM_133647.2:c.379G>T | NP_598408.1:p.Glu127Ter |