Linked Data
ClinVar Variation Id:
332336
ClinVar RCV Id:
RCV000863389
dbSNP Id:
rs145746525
ExAC:
2:172644378 C / T
gnomAD v2:
2-172644378-C-T
gnomAD v3:
2-171787868-C-T
gnomAD v4:
2-171787868-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171787868C>T , CM000664.2:g.171787868C>T | GRCh38 |
| NC_000002.11:g.172644378C>T , CM000664.1:g.172644378C>T | GRCh37 |
| NC_000002.10:g.172352624C>T | NCBI36 |
| NG_011781.1:g.111436G>A | |
| NG_011781.2:g.111436G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422440.7:c.1665G>A MANE Select | ENSP00000388658.2:p.Thr555= | |
| ENST00000263812.8:c.*1285G>A | ENSP00000263812.4:n.*1285G>A | |
| ENST00000422440.6:c.1665G>A | ENSP00000388658.2:p.Thr555= | |
| ENST00000472070.1:n.1075G>A | ||
| NM_003705.4:c.1665G>A | NP_003696.2:p.Thr555= | |
| NR_047549.1:n.1641G>A | ||
| XM_005246923.3:c.1614G>A | XP_005246980.1:p.Thr538= | |
| XM_011512069.1:c.1665G>A | XP_011510371.1:p.Thr555= | |
| XM_011512070.1:c.1392G>A | XP_011510372.1:p.Thr464= | |
| XR_923577.1:n.2692-5656C>T | ||
| XM_011512070.3:c.1392G>A | XP_011510372.1:p.Thr464= | |
| NM_003705.5:c.1665G>A MANE Select | NP_003696.2:p.Thr555= | |
| NR_047549.2:n.1579G>A |