Linked Data
ClinVar Variation Id:
433325
ClinVar RCV Id:
RCV000499013
dbSNP Id:
rs63749992
PubMed:
PMID:16392638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16159502A>G , CM000678.2:g.16159502A>G | GRCh38 |
| NC_000016.9:g.16253359A>G , CM000678.1:g.16253359A>G | GRCh37 |
| NC_000016.8:g.16160860A>G | NCBI36 |
| NG_007558.2:g.68970T>C | |
| NG_007558.3:g.69116T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.3715T>C | ENSP00000483331.2:p.Tyr1239His | |
| ENST00000205557.12:c.3715T>C MANE Select | ENSP00000205557.7:p.Tyr1239His | |
| ENST00000640696.1:c.529T>C | ENSP00000492197.1:p.Tyr177His | |
| ENST00000205557.11:c.3715T>C | ENSP00000205557.7:p.Tyr1239His | |
| ENST00000456970.6:c.3340T>C | ENSP00000405002.2:n.3340T>C | |
| ENST00000622290.4:c.*924T>C | ENSP00000483331.1:n.*924T>C | |
| NM_001171.5:c.3715T>C | NP_001162.4:p.Tyr1239His | |
| XM_011522479.1:c.3682T>C | XP_011520781.1:p.Tyr1228His | |
| XM_011522480.1:c.3373T>C | XP_011520782.1:p.Tyr1125His | |
| XM_011522481.1:c.3373T>C | XP_011520783.1:p.Tyr1125His | |
| XR_932836.1:n.3950T>C | ||
| XR_932837.1:n.3751T>C | ||
| XR_932838.1:n.3751T>C | ||
| XR_933134.1:n.539-279A>G | ||
| NM_001351800.1:c.3373T>C | NP_001338729.1:p.Tyr1125His | |
| NR_147784.1:n.3377T>C | ||
| XM_011522479.2:c.3682T>C | XP_011520781.1:p.Tyr1228His | |
| XM_011522481.3:c.3373T>C | XP_011520783.1:p.Tyr1125His | |
| XM_017023212.1:c.3547T>C | XP_016878701.1:p.Tyr1183His | |
| XM_024450261.1:c.3751T>C | XP_024306029.1:p.Tyr1251His | |
| XR_932836.2:n.3896T>C | ||
| XR_932837.3:n.3696T>C | ||
| XR_932838.3:n.3696T>C | ||
| NM_001171.6:c.3715T>C MANE Select | NP_001162.5:p.Tyr1239His |