Linked Data
ClinVar Variation Id:
694859
dbSNP Id:
rs1413846126
gnomAD v2:
11-68703872-T-C
gnomAD v4:
11-68936404-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936404T>C , CM000673.2:g.68936404T>C | GRCh38 |
| NC_000011.9:g.68703872T>C , CM000673.1:g.68703872T>C | GRCh37 |
| NC_000011.8:g.68460448T>C | NCBI36 |
| NG_007976.1:g.37554T>C , LRG_250:g.37554T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1924T>C MANE Select | ENSP00000255078.4:p.Tyr642His | |
| ENST00000674675.1:c.168T>C | ||
| ENST00000674878.1:c.168T>C | ||
| ENST00000674955.1:c.*641T>C | ENSP00000502463.1:n.*641T>C | |
| ENST00000675118.1:c.1412T>C | ||
| ENST00000675389.1:n.199T>C | ||
| ENST00000675615.1:c.1924T>C | ENSP00000502413.1:p.Tyr642His | |
| ENST00000675648.1:n.1299T>C | ||
| ENST00000675916.1:c.168T>C | ||
| ENST00000676173.1:n.2669T>C | ||
| ENST00000676182.1:c.355T>C | ||
| ENST00000676228.1:c.*1247T>C | ENSP00000502375.1:n.*1247T>C | |
| ENST00000255078.7:c.1924T>C | ENSP00000255078.3:p.Tyr642His | |
| ENST00000539064.5:n.1683T>C | ||
| ENST00000543739.5:n.917T>C | ||
| ENST00000545475.1:n.520T>C | ||
| NM_002180.2:c.1924T>C , LRG_250t1:c.1924T>C | NP_002171.2:p.Tyr642His | |
| XM_005273974.2:c.913T>C | XP_005274031.1:p.Tyr305His | |
| XM_005273975.2:c.796T>C | XP_005274032.1:p.Tyr266His | |
| XM_011544994.1:c.691T>C | XP_011543296.1:p.Tyr231His | |
| XR_949903.1:n.2026T>C | ||
| XM_005273975.3:c.796T>C | XP_005274032.1:p.Tyr266His | |
| XM_017017669.2:c.913T>C | XP_016873158.1:p.Tyr305His | |
| XM_017017670.2:c.913T>C | XP_016873159.1:p.Tyr305His | |
| XR_949903.3:n.2022T>C | ||
| NM_002180.3:c.1924T>C MANE Select | NP_002171.2:p.Tyr642His |