Linked Data
dbSNP Id:
rs1261644524
gnomAD v2:
15-90631829-T-A
gnomAD v3:
15-90088597-T-A
gnomAD v4:
15-90088597-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088597T>A , CM000677.2:g.90088597T>A | GRCh38 |
| NC_000015.9:g.90631829T>A , CM000677.1:g.90631829T>A | GRCh37 |
| NC_000015.8:g.88432833T>A | NCBI36 |
| NG_023302.1:g.18880A>T , LRG_611:g.18880A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.524A>T MANE Select | ENSP00000331897.4:p.His175Leu | |
| ENST00000330062.7:c.524A>T | ENSP00000331897.3:p.His175Leu | |
| ENST00000540499.2:c.368A>T | ENSP00000446147.2:p.His123Leu | |
| ENST00000559482.5:c.208-95A>T | ENSP00000453016.1:n.208-95A>T | |
| ENST00000560061.1:c.*149A>T | ENSP00000453254.1:n.*149A>T | |
| NM_001289910.1:c.368A>T , LRG_611t1:c.368A>T | NP_001276839.1:p.His123Leu | |
| NM_001290114.1:c.134A>T | NP_001277043.1:p.His45Leu | |
| NM_002168.3:c.524A>T , LRG_611t2:c.524A>T | NP_002159.2:p.His175Leu | |
| NM_001290114.2:c.134A>T | NP_001277043.1:p.His45Leu | |
| NM_002168.4:c.524A>T MANE Select | NP_002159.2:p.His175Leu |