Linked Data
dbSNP Id:
rs765495006
ExAC:
5:7520960 T / A
gnomAD v2:
5-7520960-T-A
gnomAD v4:
5-7520847-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7520847T>A , CM000667.2:g.7520847T>A | GRCh38 |
| NC_000005.9:g.7520960T>A , CM000667.1:g.7520960T>A | GRCh37 |
| NC_000005.8:g.7573960T>A | NCBI36 |
| NG_046913.1:g.129618T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338316.9:c.518T>A MANE Select | ENSP00000342952.4:p.Leu173His | |
| ENST00000338316.8:c.518T>A | ENSP00000342952.4:p.Leu173His | |
| ENST00000484965.5:n.252T>A | ||
| ENST00000498598.1:n.217T>A | ||
| ENST00000537121.5:c.518T>A | ENSP00000444803.2:p.Leu173His | |
| NM_020546.2:c.518T>A | NP_065433.2:p.Leu173His | |
| XM_011513942.1:c.518T>A | XP_011512244.1:p.Leu173His | |
| XR_427657.2:n.532T>A | ||
| XM_011513942.2:c.518T>A | XP_011512244.1:p.Leu173His | |
| XR_001741973.1:n.532T>A | ||
| XR_001741974.2:n.532T>A | ||
| NM_020546.3:c.518T>A MANE Select | NP_065433.2:p.Leu173His |