Linked Data
ClinVar Variation Id:
985649
ClinVar RCV Id:
RCV001266670
dbSNP Id:
rs1189016440
gnomAD v2:
1-241680547-A-G
gnomAD v4:
1-241517247-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241517247A>G , CM000663.2:g.241517247A>G | GRCh38 |
| NC_000001.10:g.241680547A>G , CM000663.1:g.241680547A>G | GRCh37 |
| NC_000001.9:g.239747170A>G | NCBI36 |
| NG_012338.1:g.7508T>C , LRG_504:g.7508T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.705T>C | ||
| ENST00000682162.1:c.231T>C | ENSP00000508203.1:n.231T>C | |
| ENST00000682567.1:n.279T>C | ||
| ENST00000683521.1:c.202T>C | ENSP00000506864.1:p.Tyr68His | |
| ENST00000684483.1:c.202T>C | ENSP00000507894.1:p.Tyr68His | |
| ENST00000366560.4:c.202T>C MANE Select | ENSP00000355518.4:p.Tyr68His | |
| ENST00000366560.3:c.202T>C | ENSP00000355518.3:p.Tyr68His | |
| ENST00000493477.1:n.315T>C | ||
| NM_000143.3:c.202T>C , LRG_504t1:c.202T>C | NP_000134.2:p.Tyr68His | |
| XM_011544132.1:c.-27T>C | XP_011542434.1:n.-27T>C | |
| XM_011544132.2:c.-27T>C | XP_011542434.1:n.-27T>C | |
| NM_000143.4:c.202T>C MANE Select | NP_000134.2:p.Tyr68His |