Linked Data
ClinVar Variation Id:
2433397
dbSNP Id:
rs950013593
gnomAD v2:
X-119582932-A-T
gnomAD v4:
X-120449077-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120449077A>T , CM000685.2:g.120449077A>T | GRCh38 |
| NC_000023.10:g.119582932A>T , CM000685.1:g.119582932A>T | GRCh37 |
| NC_000023.9:g.119466960A>T | NCBI36 |
| NG_007995.1:g.25273T>A , LRG_749:g.25273T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706600.1:c.449T>A | ENSP00000516464.1:p.Leu150His | |
| ENST00000200639.9:c.449T>A MANE Select | ENSP00000200639.4:p.Leu150His | |
| ENST00000200639.8:c.449T>A | ENSP00000200639.4:p.Leu150His | |
| ENST00000371335.4:c.449T>A | ENSP00000360386.4:p.Leu150His | |
| ENST00000434600.6:c.449T>A | ENSP00000408411.2:p.Leu150His | |
| NM_001122606.1:c.449T>A , LRG_749t3:c.449T>A | NP_001116078.1:p.Leu150His | |
| NM_002294.2:c.449T>A , LRG_749t1:c.449T>A | NP_002285.1:p.Leu150His | |
| NM_013995.2:c.449T>A , LRG_749t2:c.449T>A | NP_054701.1:p.Leu150His | |
| NM_002294.3:c.449T>A MANE Select | NP_002285.1:p.Leu150His |