Linked Data
ClinVar Variation Id:
1170345
dbSNP Id:
rs10930046
ExAC:
2:163137983 T / C
gnomAD v2:
2-163137983-T-C
gnomAD v3:
2-162281473-T-C
gnomAD v4:
2-162281473-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162281473T>C , CM000664.2:g.162281473T>C | GRCh38 |
| NC_000002.11:g.163137983T>C , CM000664.1:g.163137983T>C | GRCh37 |
| NC_000002.10:g.162846229T>C | NCBI36 |
| NG_011495.1:g.42057A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697291.1:c.*976A>G | ENSP00000513228.1:n.*976A>G | |
| ENST00000648433.1:c.1379A>G | ENSP00000496816.1:p.His460Arg | |
| ENST00000649554.1:n.989A>G | ||
| ENST00000649979.2:c.1379A>G MANE Select | ENSP00000497271.1:p.His460Arg | |
| ENST00000679938.1:c.1067A>G | ENSP00000505518.1:p.His356Arg | |
| ENST00000263642.2:c.1379A>G | ENSP00000263642.2:p.His460Arg | |
| NM_022168.3:c.1379A>G | NP_071451.2:p.His460Arg | |
| XM_011511628.1:c.662A>G | XP_011509930.1:p.His221Arg | |
| XM_011511629.1:c.1379A>G | XP_011509931.1:p.His460Arg | |
| NM_022168.4:c.1379A>G MANE Select | NP_071451.2:p.His460Arg |