Linked Data
ClinVar Variation Id:
1461313
ClinVar RCV Id:
RCV001953982
dbSNP Id:
rs199648976
ExAC:
6:137147598 C / G
gnomAD v2:
6-137147598-C-G
gnomAD v3:
6-136826460-C-G
gnomAD v4:
6-136826460-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136826460C>G , CM000668.2:g.136826460C>G | GRCh38 |
| NC_000006.11:g.137147598C>G , CM000668.1:g.137147598C>G | GRCh37 |
| NC_000006.10:g.137189291C>G | NCBI36 |
| NG_008462.1:g.8881C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.330C>G MANE Select | ENSP00000315680.3:p.His110Gln | |
| ENST00000541292.6:c.330C>G | ENSP00000441004.1:p.His110Gln | |
| ENST00000678002.1:c.205C>G | ||
| ENST00000678557.1:c.216C>G | ENSP00000502962.1:p.His72Gln | |
| ENST00000678593.1:c.335C>G | ENSP00000503841.1:n.335C>G | |
| ENST00000679286.1:c.210C>G | ENSP00000503168.1:p.His70Gln | |
| ENST00000318471.4:c.330C>G | ENSP00000315680.3:p.His110Gln | |
| ENST00000367756.8:c.330C>G | ENSP00000356730.4:p.His110Gln | |
| ENST00000541292.5:c.330C>G | ENSP00000441004.1:p.His110Gln | |
| NM_000288.3:c.330C>G | NP_000279.1:p.His110Gln | |
| XM_005267019.3:c.216C>G | XP_005267076.1:p.His72Gln | |
| XM_006715502.1:c.330C>G | XP_006715565.1:p.His110Gln | |
| XM_011535900.1:c.330C>G | XP_011534202.1:p.His110Gln | |
| XM_005267019.4:c.216C>G | XP_005267076.1:p.His72Gln | |
| XM_006715502.2:c.330C>G | XP_006715565.1:p.His110Gln | |
| XM_017010934.2:c.330C>G | XP_016866423.1:p.His110Gln | |
| NM_000288.4:c.330C>G MANE Select | NP_000279.1:p.His110Gln |