Linked Data
dbSNP Id:
rs765864615
ExAC:
2:38302518 A / T
gnomAD v2:
2-38302518-A-T
gnomAD v4:
2-38075375-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075375A>T , CM000664.2:g.38075375A>T | GRCh38 |
| NC_000002.11:g.38302518A>T , CM000664.1:g.38302518A>T | GRCh37 |
| NC_000002.10:g.38156022A>T | NCBI36 |
| NG_008386.2:g.5727T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.14T>A | ENSP00000478839.2:p.Leu5His | |
| ENST00000610745.5:c.14T>A MANE Select | ENSP00000478561.1:p.Leu5His | |
| ENST00000490576.1:c.14T>A | ENSP00000478839.1:p.Leu5His | |
| ENST00000494864.1:c.-70-4065T>A | ENSP00000479876.1:n.-70-4065T>A | |
| ENST00000610745.4:c.14T>A | ENSP00000478561.1:p.Leu5His | |
| ENST00000613082.1:n.375+405T>A | ||
| ENST00000614273.1:c.14T>A | ENSP00000483678.1:p.Leu5His | |
| NM_000104.3:c.14T>A | NP_000095.2:p.Leu5His | |
| NM_000104.4:c.14T>A MANE Select | NP_000095.2:p.Leu5His |