Linked Data
ClinVar Variation Id:
1761791
ClinVar RCV Id:
RCV002419317
dbSNP Id:
rs1433009858
gnomAD v2:
11-65636024-G-A
gnomAD v3:
11-65868553-G-A
gnomAD v4:
11-65868553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868553G>A , CM000673.2:g.65868553G>A | GRCh38 |
| NC_000011.9:g.65636024G>A , CM000673.1:g.65636024G>A | GRCh37 |
| NC_000011.8:g.65392600G>A | NCBI36 |
| NG_012304.2:g.9382C>T | |
| NG_053116.1:g.13492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.804C>T MANE Select | ENSP00000309953.6:p.His268= | |
| ENST00000307998.10:c.804C>T | ENSP00000309953.6:p.His268= | |
| ENST00000526628.5:n.1370C>T | ||
| ENST00000527969.1:n.1489C>T | ||
| ENST00000528176.5:c.804C>T | ENSP00000434151.1:p.His268= | |
| ENST00000531005.5:n.1798C>T | ||
| ENST00000531972.5:c.804C>T | ENSP00000435295.1:p.His268= | |
| ENST00000532084.5:n.230C>T | ||
| NM_016938.4:c.804C>T | NP_058634.4:p.His268= | |
| NR_037718.1:n.1063C>T | ||
| NM_016938.5:c.804C>T MANE Select | NP_058634.4:p.His268= | |
| NR_037718.2:n.929C>T |