Linked Data
dbSNP Id:
rs764970962
ExAC:
2:239186455 A / C
gnomAD v2:
2-239186455-A-C
gnomAD v4:
2-238277814-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238277814A>C , CM000664.2:g.238277814A>C | GRCh38 |
| NC_000002.11:g.239186455A>C , CM000664.1:g.239186455A>C | GRCh37 |
| NC_000002.10:g.238851194A>C | NCBI36 |
| NG_012146.1:g.15753T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707129.1:c.123T>G | ENSP00000516757.1:p.His41Gln | |
| ENST00000707130.1:c.123T>G | ENSP00000516758.1:p.His41Gln | |
| ENST00000254657.8:c.123T>G MANE Select | ENSP00000254657.3:p.His41Gln | |
| ENST00000254657.7:c.123T>G | ENSP00000254657.3:p.His41Gln | |
| ENST00000355768.6:c.123T>G | ENSP00000348013.2:p.His41Gln | |
| ENST00000431832.1:c.123T>G | ENSP00000405891.1:p.His41Gln | |
| NM_022817.2:c.123T>G | NP_073728.1:p.His41Gln | |
| XM_005246111.3:c.123T>G | XP_005246168.1:p.His41Gln | |
| XM_006712824.2:c.123T>G | XP_006712887.1:p.His41Gln | |
| XM_005246111.4:c.123T>G | XP_005246168.1:p.His41Gln | |
| XM_006712824.4:c.123T>G | XP_006712887.1:p.His41Gln | |
| NM_022817.3:c.123T>G MANE Select | NP_073728.1:p.His41Gln |