Linked Data
ClinVar Variation Id:
370365
dbSNP Id:
rs191905539
ExAC:
9:6610328 C / A
gnomAD v2:
9-6610328-C-A
gnomAD v3:
9-6610328-C-A
gnomAD v4:
9-6610328-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6610328C>A , CM000671.2:g.6610328C>A | GRCh38 |
| NC_000009.11:g.6610328C>A , CM000671.1:g.6610328C>A | GRCh37 |
| NC_000009.10:g.6600328C>A | NCBI36 |
| NG_016397.1:g.40365G>T , LRG_643:g.40365G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.499G>T MANE Select | ENSP00000370737.4:p.Glu167Ter | |
| ENST00000639020.1:c.94G>T | ENSP00000491392.1:p.Glu32Ter | |
| ENST00000639364.1:n.199G>T | ||
| ENST00000639840.1:c.205G>T | ENSP00000491161.1:p.Glu69Ter | |
| ENST00000639954.1:n.207G>T | ||
| ENST00000640592.1:n.382G>T | ||
| ENST00000321612.6:c.499G>T | ENSP00000370737.3:p.Glu167Ter | |
| NM_000170.2:c.499G>T , LRG_643t1:c.499G>T | NP_000161.2:p.Glu167Ter | |
| NM_000170.3:c.499G>T MANE Select | NP_000161.2:p.Glu167Ter |