Linked Data
dbSNP Id:
rs138571039
ExAC:
19:2251791 C / G
gnomAD v2:
19-2251791-C-G
gnomAD v3:
19-2251792-C-G
gnomAD v4:
19-2251792-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251792C>G , CM000681.2:g.2251792C>G | GRCh38 |
| NC_000019.9:g.2251791C>G , CM000681.1:g.2251791C>G | GRCh37 |
| NC_000019.8:g.2202791C>G | NCBI36 |
| NG_012190.1:g.7679C>G | |
| NG_032853.1:g.9632G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1518C>G MANE Select | ENSP00000221496.2:p.His506Gln | |
| ENST00000221496.4:c.1518C>G | ENSP00000221496.2:p.His506Gln | |
| NM_000479.3:c.1518C>G | NP_000470.2:p.His506Gln | |
| NM_000479.4:c.1518C>G | NP_000470.2:p.His506Gln | |
| NM_000479.5:c.1518C>G MANE Select | NP_000470.3:p.His506Gln |