Linked Data
dbSNP Id:
rs550630185
ExAC:
19:4816725 G / C
gnomAD v2:
19-4816725-G-C
gnomAD v3:
19-4816713-G-C
gnomAD v4:
19-4816713-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816713G>C , CM000681.2:g.4816713G>C | GRCh38 |
| NC_000019.9:g.4816725G>C , CM000681.1:g.4816725G>C | GRCh37 |
| NC_000019.8:g.4767725G>C | NCBI36 |
| NG_031998.1:g.20030C>G , LRG_358:g.20030C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1665C>G MANE Select | ENSP00000248244.4:p.His555Gln | |
| ENST00000248244.5:c.1665C>G | ENSP00000248244.4:p.His555Gln | |
| ENST00000621756.1:c.1248C>G | ENSP00000479467.1:p.His416Gln | |
| NM_182919.3:c.1665C>G , LRG_358t1:c.1665C>G | NP_891549.1:p.His555Gln | |
| NM_001385678.1:c.1623C>G | NP_001372607.1:p.His541Gln | |
| NM_001385679.1:c.1530C>G | NP_001372608.1:p.His510Gln | |
| NM_001385680.1:c.1023C>G | NP_001372609.1:p.His341Gln | |
| NM_182919.4:c.1665C>G MANE Select | NP_891549.1:p.His555Gln |