Linked Data
dbSNP Id:
rs759706203
ExAC:
7:17379301 C / T
gnomAD v2:
7-17379301-C-T
gnomAD v4:
7-17339677-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339677C>T , CM000669.2:g.17339677C>T | GRCh38 |
| NC_000007.13:g.17379301C>T , CM000669.1:g.17379301C>T | GRCh37 |
| NC_000007.12:g.17345826C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1852C>T MANE Select | ENSP00000242057.4:p.His618Tyr | |
| ENST00000637807.1:c.1822C>T | ENSP00000490530.1:p.His608Tyr | |
| ENST00000642825.1:c.1807C>T | ENSP00000495987.1:p.His603Tyr | |
| ENST00000242057.8:c.1852C>T | ENSP00000242057.4:p.His618Tyr | |
| ENST00000463496.1:c.1852C>T | ENSP00000436466.1:p.His618Tyr | |
| NM_001621.4:c.1852C>T | NP_001612.1:p.His618Tyr | |
| NM_001621.5:c.1852C>T MANE Select | NP_001612.1:p.His618Tyr |