Linked Data
ClinVar Variation Id:
2728
dbSNP Id:
rs28940274
gnomAD v4:
11-61955723-T-C
PubMed:
PMID:9662395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61955723T>C , CM000673.2:g.61955723T>C | GRCh38 |
| NC_000011.9:g.61723195T>C , CM000673.1:g.61723195T>C | GRCh37 |
| NC_000011.8:g.61479771T>C | NCBI36 |
| NG_009033.1:g.10840T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378043.9:c.253T>C MANE Select | ENSP00000367282.4:p.Tyr85His | |
| ENST00000378043.8:c.253T>C | ENSP00000367282.4:p.Tyr85His | |
| ENST00000449131.6:c.73T>C | ENSP00000399709.2:p.Tyr25His | |
| ENST00000524877.5:n.685T>C | ||
| ENST00000524926.5:c.253T>C | ENSP00000432681.1:p.Tyr85His | |
| ENST00000526988.1:c.-66T>C | ENSP00000433195.1:n.-66T>C | |
| ENST00000529265.5:n.176T>C | ||
| ENST00000533521.5:n.877T>C | ||
| ENST00000534553.5:c.-66T>C | ENSP00000431189.1:n.-66T>C | |
| NM_001139443.1:c.73T>C | NP_001132915.1:p.Tyr25His | |
| NM_001300786.1:c.73T>C | NP_001287715.1:p.Tyr25His | |
| NM_001300787.1:c.73T>C | NP_001287716.1:p.Tyr25His | |
| NM_004183.3:c.253T>C | NP_004174.1:p.Tyr85His | |
| XM_005274210.2:c.253T>C | XP_005274267.1:p.Tyr85His | |
| XM_005274215.2:c.-66T>C | XP_005274272.1:n.-66T>C | |
| XM_005274216.2:c.73T>C | XP_005274273.1:p.Tyr25His | |
| XM_005274218.3:c.-66T>C | XP_005274275.1:n.-66T>C | |
| XM_005274219.2:c.253T>C | XP_005274276.1:p.Tyr85His | |
| XM_005274221.2:c.253T>C | XP_005274278.1:p.Tyr85His | |
| XM_011545229.1:c.253T>C | XP_011543531.1:p.Tyr85His | |
| XM_011545230.1:c.160T>C | XP_011543532.1:p.Tyr54His | |
| XM_011545231.1:c.-66T>C | XP_011543533.1:n.-66T>C | |
| XM_011545232.1:c.253T>C | XP_011543534.1:p.Tyr85His | |
| NM_001363591.1:c.-66T>C | NP_001350520.1:n.-66T>C | |
| NM_001363592.1:c.253T>C | NP_001350521.1:p.Tyr85His | |
| NM_001363593.1:c.-923T>C | NP_001350522.1:n.-923T>C | |
| NR_134580.1:n.833T>C | ||
| XM_005274210.4:c.253T>C | XP_005274267.1:p.Tyr85His | |
| XM_005274215.4:c.-66T>C | XP_005274272.1:n.-66T>C | |
| XM_005274216.4:c.73T>C | XP_005274273.1:p.Tyr25His | |
| XM_005274219.4:c.253T>C | XP_005274276.1:p.Tyr85His | |
| XM_005274221.4:c.253T>C | XP_005274278.1:p.Tyr85His | |
| XM_011545229.3:c.253T>C | XP_011543531.1:p.Tyr85His | |
| XM_011545230.3:c.160T>C | XP_011543532.1:p.Tyr54His | |
| XM_017018230.2:c.-66T>C | XP_016873719.1:n.-66T>C | |
| XR_001747952.2:n.751T>C | ||
| XR_001747953.2:n.943T>C | ||
| XR_001747954.2:n.943T>C | ||
| XR_002957249.1:n.2015A>G | ||
| NM_004183.4:c.253T>C MANE Select | NP_004174.1:p.Tyr85His | |
| NM_001139443.2:c.73T>C | NP_001132915.1:p.Tyr25His | |
| NM_001300786.2:c.73T>C | NP_001287715.1:p.Tyr25His | |
| NM_001300787.2:c.73T>C | NP_001287716.1:p.Tyr25His | |
| NM_001363591.2:c.-66T>C | NP_001350520.1:n.-66T>C | |
| NM_001363593.2:c.-923T>C | NP_001350522.1:n.-923T>C | |
| NR_134580.2:n.366T>C |