Linked Data
dbSNP Id:
rs142082800
ExAC:
8:37823418 G / C
gnomAD v2:
8-37823418-G-C
gnomAD v3:
8-37965900-G-C
gnomAD v4:
8-37965900-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965900G>C , CM000670.2:g.37965900G>C | GRCh38 |
| NC_000008.10:g.37823418G>C , CM000670.1:g.37823418G>C | GRCh37 |
| NC_000008.9:g.37942575G>C | NCBI36 |
| NG_011936.1:g.5767C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.570C>G MANE Select | ENSP00000343782.3:p.His190Gln | |
| ENST00000520341.2:n.698C>G | ||
| ENST00000647937.1:c.54C>G | ENSP00000497740.1:p.His18Gln | |
| ENST00000345060.4:c.570C>G | ENSP00000343782.3:p.His190Gln | |
| ENST00000614635.1:c.570C>G | ENSP00000480325.1:p.His190Gln | |
| NM_000025.2:c.570C>G | NP_000016.1:p.His190Gln | |
| NM_000025.3:c.570C>G MANE Select | NP_000016.1:p.His190Gln |