Linked Data
dbSNP Id:
rs1030256763
gnomAD v2:
6-74331612-T-C
gnomAD v3:
6-73621889-T-C
gnomAD v4:
6-73621889-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73621889T>C , CM000668.2:g.73621889T>C | GRCh38 |
| NC_000006.11:g.74331612T>C , CM000668.1:g.74331612T>C | GRCh37 |
| NC_000006.10:g.74388333T>C | NCBI36 |
| NG_008272.1:g.37126A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.893A>G MANE Select | ENSP00000348019.5:p.His298Arg | |
| ENST00000355773.5:c.893A>G | ENSP00000348019.5:p.His298Arg | |
| NM_012434.4:c.893A>G | NP_036566.1:p.His298Arg | |
| XM_005248710.2:c.842A>G | XP_005248767.1:p.His281Arg | |
| XM_005248711.1:c.695A>G | XP_005248768.1:p.His232Arg | |
| XM_011535750.1:c.893A>G | XP_011534052.1:p.His298Arg | |
| NM_012434.5:c.893A>G MANE Select | NP_036566.1:p.His298Arg | |
| NM_001382629.1:c.662A>G | NP_001369558.1:p.His221Arg | |
| NM_001382630.1:c.893A>G | NP_001369559.1:p.His298Arg | |
| NM_001382631.1:c.914A>G | NP_001369560.1:p.His305Arg | |
| NM_001382632.1:c.806A>G | NP_001369561.1:p.His269Arg | |
| NM_001382633.1:c.893A>G | NP_001369562.1:p.His298Arg | |
| NM_001382634.1:c.820-6442A>G | NP_001369563.1:n.820-6442A>G | |
| NM_001382635.1:c.890A>G | NP_001369564.1:p.His297Arg | |
| NM_001382636.1:c.575A>G | NP_001369565.1:p.His192Arg |