Linked Data
dbSNP Id:
rs1435747464
gnomAD v2:
5-135288573-A-G
gnomAD v3:
5-135952884-A-G
gnomAD v4:
5-135952884-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135952884A>G , CM000667.2:g.135952884A>G | GRCh38 |
| NC_000005.9:g.135288573A>G , CM000667.1:g.135288573A>G | GRCh37 |
| NC_000005.8:g.135316472A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274507.6:c.130T>C MANE Select | ENSP00000274507.1:p.Tyr44His | |
| ENST00000274507.5:c.130T>C | ENSP00000274507.1:p.Tyr44His | |
| ENST00000471827.1:n.233T>C | ||
| ENST00000512872.1:c.-87T>C | ENSP00000427012.1:n.-87T>C | |
| ENST00000514447.2:c.130T>C | ENSP00000421123.2:p.Tyr44His | |
| ENST00000522943.5:c.130T>C | ENSP00000429618.1:p.Tyr44His | |
| NM_002302.2:c.130T>C | NP_002293.2:p.Tyr44His | |
| NM_002302.3:c.130T>C MANE Select | NP_002293.2:p.Tyr44His |