Linked Data
ClinVar Variation Id:
336933
dbSNP Id:
rs72903553
gnomAD v2:
2-71336838-C-T
gnomAD v3:
2-71109708-C-T
gnomAD v4:
2-71109708-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71109708C>T , CM000664.2:g.71109708C>T | GRCh38 |
| NC_000002.11:g.71336838C>T , CM000664.1:g.71336838C>T | GRCh37 |
| NC_000002.10:g.71190346C>T | NCBI36 |
| NG_008977.1:g.25557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.*262G>A MANE Select | ENSP00000244217.5:n.*262G>A | |
| ENST00000244217.5:c.*262G>A | ENSP00000244217.5:n.*262G>A | |
| ENST00000413592.5:c.499G>A | ENSP00000391140.1:n.499G>A | |
| NM_032601.3:c.*262G>A | NP_115990.3:n.*262G>A | |
| XM_005264613.2:c.*262G>A | XP_005264670.1:n.*262G>A | |
| XR_939729.2:n.958G>A | ||
| NM_032601.4:c.*262G>A MANE Select | NP_115990.3:n.*262G>A |