Linked Data
ClinVar Variation Id:
555815
dbSNP Id:
rs386833549
ExAC:
9:6554703 C / T
gnomAD v2:
9-6554703-C-T
gnomAD v3:
9-6554703-C-T
gnomAD v4:
9-6554703-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6554703C>T , CM000671.2:g.6554703C>T | GRCh38 |
| NC_000009.11:g.6554703C>T , CM000671.1:g.6554703C>T | GRCh37 |
| NC_000009.10:g.6544703C>T | NCBI36 |
| NG_016397.1:g.95990G>A , LRG_643:g.95990G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2281G>A MANE Select | ENSP00000370737.4:p.Gly761Arg | |
| ENST00000638233.1:n.716G>A | ||
| ENST00000638661.1:c.481G>A | ENSP00000491369.1:p.Gly161Arg | |
| ENST00000638694.1:n.468G>A | ||
| ENST00000639318.1:c.481G>A | ENSP00000491932.1:p.Gly161Arg | |
| ENST00000639364.1:n.1981G>A | ||
| ENST00000639443.1:n.1849G>A | ||
| ENST00000639639.1:c.-18G>A | ENSP00000491312.1:n.-18G>A | |
| ENST00000639954.1:n.1989G>A | ||
| ENST00000640505.1:n.520G>A | ||
| ENST00000321612.6:c.2281G>A | ENSP00000370737.3:p.Gly761Arg | |
| ENST00000467946.1:n.207G>A | ||
| NM_000170.2:c.2281G>A , LRG_643t1:c.2281G>A | NP_000161.2:p.Gly761Arg | |
| NM_000170.3:c.2281G>A MANE Select | NP_000161.2:p.Gly761Arg |