Linked Data
ClinVar Variation Id:
2259237
ClinVar RCV Id:
RCV004121250
dbSNP Id:
rs749515731
ExAC:
9:99580789 A / G
gnomAD v2:
9-99580789-A-G
gnomAD v3:
9-96818507-A-G
gnomAD v4:
9-96818507-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96818507A>G , CM000671.2:g.96818507A>G | GRCh38 |
| NC_000009.11:g.99580789A>G , CM000671.1:g.99580789A>G | GRCh37 |
| NC_000009.10:g.98620610A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481138.6:c.1516T>C MANE Select | ENSP00000419397.1:p.Tyr506His | |
| ENST00000289032.12:c.1481T>C | ||
| ENST00000481138.5:c.1516T>C | ENSP00000419397.1:p.Tyr506His | |
| ENST00000535338.5:c.1516T>C | ENSP00000440624.2:p.Tyr506His | |
| NM_001001662.1:c.1516T>C | NP_001001662.1:p.Tyr506His | |
| XM_005251742.3:c.1516T>C | XP_005251799.1:p.Tyr506His | |
| XM_005251744.2:c.1444T>C | XP_005251801.1:p.Tyr482His | |
| XM_011518313.1:c.1534T>C | XP_011516615.1:p.Tyr512His | |
| XM_011518314.1:c.1516T>C | XP_011516616.1:p.Tyr506His | |
| XM_011518315.1:c.1516T>C | XP_011516617.1:p.Tyr506His | |
| XM_011518316.1:c.1516T>C | XP_011516618.1:p.Tyr506His | |
| XM_011518317.1:c.1516T>C | XP_011516619.1:p.Tyr506His | |
| XM_011518318.1:c.1516T>C | XP_011516620.1:p.Tyr506His | |
| XM_011518319.1:c.1498T>C | XP_011516621.1:p.Tyr500His | |
| XM_011518320.1:c.1498T>C | XP_011516622.1:p.Tyr500His | |
| XM_011518321.1:c.1120T>C | XP_011516623.1:p.Tyr374His | |
| XM_011518322.1:c.1120T>C | XP_011516624.1:p.Tyr374His | |
| NM_001001662.2:c.1516T>C | NP_001001662.1:p.Tyr506His | |
| NM_001346991.1:c.1516T>C | NP_001333920.1:p.Tyr506His | |
| NM_001346993.1:c.1444T>C | NP_001333922.1:p.Tyr482His | |
| NM_001346995.1:c.1120T>C | NP_001333924.1:p.Tyr374His | |
| XM_011518315.2:c.1516T>C | XP_011516617.1:p.Tyr506His | |
| XM_011518318.3:c.1516T>C | XP_011516620.1:p.Tyr506His | |
| XM_011518320.2:c.1498T>C | XP_011516622.1:p.Tyr500His | |
| XM_017014343.2:c.1498T>C | XP_016869832.1:p.Tyr500His | |
| XM_024447430.1:c.1120T>C | XP_024303198.1:p.Tyr374His | |
| XM_024447431.1:c.1120T>C | XP_024303199.1:p.Tyr374His | |
| XR_001746208.2:n.1745T>C | ||
| NM_001001662.3:c.1516T>C MANE Select | NP_001001662.1:p.Tyr506His | |
| NM_001346991.2:c.1516T>C | NP_001333920.1:p.Tyr506His | |
| NM_001346993.2:c.1444T>C | NP_001333922.1:p.Tyr482His | |
| NM_001346995.2:c.1120T>C | NP_001333924.1:p.Tyr374His |