Linked Data
ClinVar Variation Id:
317199
dbSNP Id:
rs200704926
ExAC:
15:80445354 G / T
gnomAD v2:
15-80445354-G-T
gnomAD v3:
15-80153012-G-T
gnomAD v4:
15-80153012-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80153012G>T , CM000677.2:g.80153012G>T | GRCh38 |
| NC_000015.9:g.80445354G>T , CM000677.1:g.80445354G>T | GRCh37 |
| NC_000015.8:g.78232409G>T | NCBI36 |
| NG_012833.1:g.5014G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-43G>T | ENSP00000507680.1:n.-43G>T | |
| ENST00000682012.1:n.33G>T | ||
| ENST00000684569.1:n.3G>T | ||
| ENST00000561421.6:c.-43G>T MANE Select | ENSP00000453347.2:n.-43G>T | |
| ENST00000261755.9:c.-29-14G>T | ENSP00000261755.5:n.-29-14G>T | |
| ENST00000407106.5:c.-29-14G>T | ENSP00000385080.1:n.-29-14G>T | |
| ENST00000537726.5:n.54-14G>T | ||
| ENST00000558022.5:c.-29-14G>T | ENSP00000453152.1:n.-29-14G>T | |
| ENST00000558767.5:n.219G>T | ||
| ENST00000561369.1:n.52-14G>T | ||
| ENST00000561421.5:c.-43G>T | ENSP00000453347.1:n.-43G>T | |
| NM_000137.2:c.-43G>T | NP_000128.1:n.-43G>T | |
| XM_024449872.1:c.-29-14G>T | XP_024305640.1:n.-29-14G>T | |
| NM_000137.4:c.-43G>T MANE Select | NP_000128.1:n.-43G>T | |
| NM_001374377.1:c.-29-14G>T | NP_001361306.1:n.-29-14G>T | |
| NM_001374380.1:c.-29-14G>T | NP_001361309.1:n.-29-14G>T |