Linked Data
ClinVar Variation Id:
2111550
ClinVar RCV Id:
RCV003023986
dbSNP Id:
rs752292013
ExAC:
2:172712441 C / T
gnomAD v2:
2-172712441-C-T
gnomAD v4:
2-171855931-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171855931C>T , CM000664.2:g.171855931C>T | GRCh38 |
| NC_000002.11:g.172712441C>T , CM000664.1:g.172712441C>T | GRCh37 |
| NC_000002.10:g.172420687C>T | NCBI36 |
| NG_011781.1:g.43373G>A | |
| NG_011781.2:g.43373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422440.7:c.228G>A MANE Select | ENSP00000388658.2:p.Glu76= | |
| ENST00000263812.8:c.210-11423G>A | ENSP00000263812.4:n.210-11423G>A | |
| ENST00000422440.6:c.228G>A | ENSP00000388658.2:p.Glu76= | |
| ENST00000426896.5:c.228G>A | ENSP00000413968.1:p.Glu76= | |
| ENST00000464063.1:n.549G>A | ||
| ENST00000472748.5:n.393G>A | ||
| ENST00000475360.6:c.216G>A | ENSP00000437845.1:p.Glu72= | |
| ENST00000484227.5:n.426G>A | ||
| NM_003705.4:c.228G>A | NP_003696.2:p.Glu76= | |
| NR_047549.1:n.302-11423G>A | ||
| XM_005246923.3:c.177G>A | XP_005246980.1:p.Glu59= | |
| XM_011512069.1:c.228G>A | XP_011510371.1:p.Glu76= | |
| XM_011512070.1:c.-150G>A | XP_011510372.1:n.-150G>A | |
| XM_011512070.3:c.-150G>A | XP_011510372.1:n.-150G>A | |
| NM_003705.5:c.228G>A MANE Select | NP_003696.2:p.Glu76= | |
| NR_047549.2:n.240-11423G>A |