Linked Data
ClinVar Variation Id:
2699222
ClinVar RCV Id:
RCV003501045
dbSNP Id:
rs756284261
ExAC:
2:31805701 A / G
gnomAD v2:
2-31805701-A-G
gnomAD v4:
2-31580631-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580631A>G , CM000664.2:g.31580631A>G | GRCh38 |
| NC_000002.11:g.31805701A>G , CM000664.1:g.31805701A>G | GRCh37 |
| NC_000002.10:g.31659205A>G | NCBI36 |
| NG_008365.1:g.5341T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.270T>C MANE Select | ENSP00000477587.1:p.His90= | |
| ENST00000622030.1:c.270T>C | ENSP00000477587.1:p.His90= | |
| NM_000348.3:c.270T>C | NP_000339.2:p.His90= | |
| XM_011533068.1:c.270T>C | XP_011531370.1:p.His90= | |
| XM_011533070.1:c.27-46865T>C | XP_011531372.1:n.27-46865T>C | |
| XM_011533071.1:c.27-46865T>C | XP_011531373.1:n.27-46865T>C | |
| XM_011533072.1:c.27-46865T>C | XP_011531374.1:n.27-46865T>C | |
| XM_011533072.2:c.27-46865T>C | XP_011531374.1:n.27-46865T>C | |
| NM_000348.4:c.270T>C MANE Select | NP_000339.2:p.His90= |