Linked Data
dbSNP Id:
rs766238529
ExAC:
2:29443624 A / T
gnomAD v2:
2-29443624-A-T
gnomAD v4:
2-29220758-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220758A>T , CM000664.2:g.29220758A>T | GRCh38 |
| NC_000002.11:g.29443624A>T , CM000664.1:g.29443624A>T | GRCh37 |
| NC_000002.10:g.29297128A>T | NCBI36 |
| NG_009445.1:g.705809T>A , LRG_488:g.705809T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3593T>A MANE Select | ENSP00000373700.3:p.Leu1198His | |
| ENST00000431873.6:c.820T>A | ||
| ENST00000638605.1:n.470T>A | ||
| ENST00000642122.1:c.389T>A | ENSP00000493203.1:p.Leu130His | |
| ENST00000389048.7:c.3593T>A | ENSP00000373700.3:p.Leu1198His | |
| ENST00000431873.5:c.473T>A | ENSP00000414027.2:p.Leu158His | |
| ENST00000618119.4:c.2462T>A | ENSP00000482733.1:p.Leu821His | |
| NM_004304.4:c.3593T>A | NP_004295.2:p.Leu1198His | |
| NM_001353765.1:c.389T>A | NP_001340694.1:p.Leu130His | |
| XM_024452778.1:c.746T>A | XP_024308546.1:p.Leu249His | |
| XM_024452779.1:c.389T>A | XP_024308547.1:p.Leu130His | |
| NM_004304.5:c.3593T>A MANE Select | NP_004295.2:p.Leu1198His | |
| NM_001353765.2:c.389T>A | NP_001340694.1:p.Leu130His |