Linked Data
ClinVar Variation Id:
906231
dbSNP Id:
rs1364257553
gnomAD v3:
6-31950756-T-C
gnomAD v4:
6-31950756-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950756T>C , CM000668.2:g.31950756T>C | GRCh38 |
| NC_000006.11:g.31918533T>C , CM000668.1:g.31918533T>C | GRCh37 |
| NC_000006.10:g.32026512T>C | NCBI36 |
| NG_008191.1:g.9813T>C , LRG_136:g.9813T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2154T>C | ||
| ENST00000483004.2:c.1546T>C | ENSP00000419887.2:p.Tyr516His | |
| ENST00000698628.1:c.1624+353T>C | ENSP00000513848.1:n.1624+353T>C | |
| ENST00000698629.1:n.1939T>C | ||
| ENST00000698630.1:n.2478T>C | ||
| ENST00000698631.1:n.2479T>C | ||
| ENST00000698632.1:n.3273T>C | ||
| ENST00000698633.1:n.3163T>C | ||
| ENST00000698636.1:n.1984T>C | ||
| ENST00000425368.7:c.1762T>C MANE Select | ENSP00000416561.2:p.Tyr588His | |
| ENST00000425368.6:c.1762T>C | ENSP00000416561.2:p.Tyr588His | |
| ENST00000456570.5:c.3268T>C | ENSP00000410815.1:p.Tyr1090His | |
| ENST00000467360.1:n.888T>C | ||
| ENST00000477310.1:c.2815T>C | ENSP00000418996.1:p.Tyr939His | |
| ENST00000483004.1:c.384T>C | ||
| NM_001710.5:c.1762T>C , LRG_136t1:c.1762T>C | NP_001701.2:p.Tyr588His | |
| NM_001710.6:c.1762T>C MANE Select | NP_001701.2:p.Tyr588His |