Linked Data
ClinVar Variation Id:
559382
ClinVar RCV Id:
RCV000677085
dbSNP Id:
rs1554572967
gnomAD v4:
8-93923656-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93923656T>C , CM000670.2:g.93923656T>C | GRCh38 |
| NC_000008.10:g.94935884T>C , CM000670.1:g.94935884T>C | GRCh37 |
| NC_000008.9:g.95005060T>C | NCBI36 |
| NG_012233.1:g.11723T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.1597T>C MANE Select | ENSP00000297598.4:p.Tyr533His | |
| ENST00000297598.4:c.1597T>C | ENSP00000297598.4:p.Tyr533His | |
| ENST00000396200.3:c.1672T>C | ENSP00000379503.3:p.Tyr558His | |
| ENST00000517764.1:c.1597T>C | ENSP00000430380.1:p.Tyr533His | |
| ENST00000520728.5:c.1597T>C | ENSP00000428317.1:p.Tyr533His | |
| NM_001161779.1:c.1672T>C | NP_001155251.1:p.Tyr558His | |
| NM_001161780.1:c.1672T>C | NP_001155252.1:p.Tyr558His | |
| NM_001161781.1:c.1597T>C | NP_001155253.1:p.Tyr533His | |
| NM_018444.3:c.1597T>C | NP_060914.2:p.Tyr533His | |
| XM_011517135.1:c.1651T>C | XP_011515437.1:p.Tyr551His | |
| XM_011517136.1:c.1597T>C | XP_011515438.1:p.Tyr533His | |
| XM_011517137.1:c.1597T>C | XP_011515439.1:p.Tyr533His | |
| XM_011517135.2:c.1651T>C | XP_011515437.1:p.Tyr551His | |
| XM_011517136.2:c.1597T>C | XP_011515438.1:p.Tyr533His | |
| XM_017013588.1:c.1759T>C | XP_016869077.1:p.Tyr587His | |
| NM_018444.4:c.1597T>C MANE Select | NP_060914.2:p.Tyr533His | |
| NM_001161780.2:c.1672T>C | NP_001155252.1:p.Tyr558His | |
| NM_001161781.2:c.1597T>C | NP_001155253.1:p.Tyr533His | |
| NM_001161779.2:c.1672T>C | NP_001155251.1:p.Tyr558His |