Linked Data
ClinVar Variation Id:
1804991
ClinVar RCV Id:
RCV002471409
dbSNP Id:
rs764270833
ExAC:
2:31751335 A / G
gnomAD v2:
2-31751335-A-G
gnomAD v4:
2-31526265-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31526265A>G , CM000664.2:g.31526265A>G | GRCh38 |
| NC_000002.11:g.31751335A>G , CM000664.1:g.31751335A>G | GRCh37 |
| NC_000002.10:g.31604839A>G | NCBI36 |
| NG_008365.1:g.59707T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.699-3T>C MANE Select | ENSP00000477587.1:n.699-3T>C | |
| ENST00000622030.1:c.699-3T>C | ENSP00000477587.1:n.699-3T>C | |
| NM_000348.3:c.699-3T>C | NP_000339.2:n.699-3T>C | |
| XM_011533069.1:c.477-3T>C | XP_011531371.1:n.477-3T>C | |
| XM_011533070.1:c.444-3T>C | XP_011531372.1:n.444-3T>C | |
| XM_011533071.1:c.444-3T>C | XP_011531373.1:n.444-3T>C | |
| XM_011533072.1:c.444-3T>C | XP_011531374.1:n.444-3T>C | |
| XM_011533069.2:c.477-3T>C | XP_011531371.1:n.477-3T>C | |
| XM_011533072.2:c.444-3T>C | XP_011531374.1:n.444-3T>C | |
| NM_000348.4:c.699-3T>C MANE Select | NP_000339.2:n.699-3T>C |