Linked Data
dbSNP Id:
rs759196366
ExAC:
9:894163 T / C
gnomAD v2:
9-894163-T-C
gnomAD v4:
9-894163-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.894163T>C , CM000671.2:g.894163T>C | GRCh38 |
| NC_000009.11:g.894163T>C , CM000671.1:g.894163T>C | GRCh37 |
| NC_000009.10:g.884163T>C | NCBI36 |
| NG_009221.1:g.57474T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.790T>C MANE Select | ENSP00000371711.3:p.Tyr264His | |
| ENST00000382276.7:c.790T>C | ENSP00000371711.3:p.Tyr264His | |
| ENST00000564322.1:n.939T>C | ||
| ENST00000569227.1:c.316T>C | ENSP00000454701.1:p.Tyr106His | |
| NM_021951.2:c.790T>C | NP_068770.2:p.Tyr264His | |
| XM_006716732.1:c.790T>C | XP_006716795.1:p.Tyr264His | |
| XM_011517770.1:c.838T>C | XP_011516072.1:p.Tyr280His | |
| XM_011517771.1:c.838T>C | XP_011516073.1:p.Tyr280His | |
| XM_011517772.1:c.838T>C | XP_011516074.1:p.Tyr280His | |
| XM_011517773.1:c.316T>C | XP_011516075.1:p.Tyr106His | |
| NM_001363767.1:c.316T>C | NP_001350696.1:p.Tyr106His | |
| XM_011517773.3:c.316T>C | XP_011516075.1:p.Tyr106His | |
| XM_017014374.1:c.587-22600T>C | XP_016869863.1:n.587-22600T>C | |
| XM_017014375.1:c.539-22600T>C | XP_016869864.1:n.539-22600T>C | |
| XM_024447434.1:c.244T>C | XP_024303202.1:p.Tyr82His | |
| NM_021951.3:c.790T>C MANE Select | NP_068770.2:p.Tyr264His |