Linked Data
ClinVar Variation Id:
557452
ClinVar RCV Id:
RCV000673595
dbSNP Id:
rs775152764
ExAC:
15:80454621 A / T
gnomAD v2:
15-80454621-A-T
gnomAD v3:
15-80162279-A-T
gnomAD v4:
15-80162279-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80162279A>T , CM000677.2:g.80162279A>T | GRCh38 |
| NC_000015.9:g.80454621A>T , CM000677.1:g.80454621A>T | GRCh37 |
| NC_000015.8:g.78241676A>T | NCBI36 |
| NG_012833.1:g.14281A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.398A>T | ENSP00000507680.1:p.His133Leu | |
| ENST00000682012.1:n.473A>T | ||
| ENST00000683593.1:n.2061A>T | ||
| ENST00000684363.1:c.365-113A>T | ENSP00000507314.1:n.365-113A>T | |
| ENST00000684569.1:n.443A>T | ||
| ENST00000561421.6:c.398A>T MANE Select | ENSP00000453347.2:p.His133Leu | |
| ENST00000646551.1:n.1885A>T | ||
| ENST00000261755.9:c.398A>T | ENSP00000261755.5:p.His133Leu | |
| ENST00000407106.5:c.398A>T | ENSP00000385080.1:p.His133Leu | |
| ENST00000537726.5:n.544A>T | ||
| ENST00000539156.5:c.188A>T | ENSP00000454271.1:p.His63Leu | |
| ENST00000558022.5:c.398A>T | ENSP00000453152.1:p.His133Leu | |
| ENST00000558627.1:n.326A>T | ||
| ENST00000558767.5:n.659A>T | ||
| ENST00000561369.1:n.542A>T | ||
| ENST00000561421.5:c.398A>T | ENSP00000453347.1:p.His133Leu | |
| NM_000137.2:c.398A>T | NP_000128.1:p.His133Leu | |
| XM_024449872.1:c.398A>T | XP_024305640.1:p.His133Leu | |
| NM_000137.4:c.398A>T MANE Select | NP_000128.1:p.His133Leu | |
| NM_001374377.1:c.398A>T | NP_001361306.1:p.His133Leu | |
| NM_001374380.1:c.398A>T | NP_001361309.1:p.His133Leu |