Linked Data
ClinVar Variation Id:
1504186
ClinVar RCV Id:
RCV002026006
dbSNP Id:
rs754531832
ExAC:
9:6558572 T / C
gnomAD v2:
9-6558572-T-C
gnomAD v4:
9-6558572-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558572T>C , CM000671.2:g.6558572T>C | GRCh38 |
| NC_000009.11:g.6558572T>C , CM000671.1:g.6558572T>C | GRCh37 |
| NC_000009.10:g.6548572T>C | NCBI36 |
| NG_016397.1:g.92121A>G , LRG_643:g.92121A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2039A>G MANE Select | ENSP00000370737.4:p.His680Arg | |
| ENST00000460457.2:n.199A>G | ||
| ENST00000638233.1:n.474A>G | ||
| ENST00000638661.1:c.239A>G | ENSP00000491369.1:p.His80Arg | |
| ENST00000638694.1:n.226A>G | ||
| ENST00000639318.1:c.239A>G | ENSP00000491932.1:p.His80Arg | |
| ENST00000639364.1:n.1739A>G | ||
| ENST00000639443.1:n.1607A>G | ||
| ENST00000639954.1:n.1747A>G | ||
| ENST00000640208.1:c.239A>G | ENSP00000491895.1:p.His80Arg | |
| ENST00000640505.1:n.278A>G | ||
| ENST00000640592.1:n.1922A>G | ||
| ENST00000321612.6:c.2039A>G | ENSP00000370737.3:p.His680Arg | |
| ENST00000460457.1:n.178A>G | ||
| NM_000170.2:c.2039A>G , LRG_643t1:c.2039A>G | NP_000161.2:p.His680Arg | |
| NM_000170.3:c.2039A>G MANE Select | NP_000161.2:p.His680Arg |