Linked Data
ClinVar Variation Id:
65841
ClinVar RCV Id:
RCV000056081
dbSNP Id:
rs587778784
ExAC:
2:219679186 G / T
gnomAD v2:
2-219679186-G-T
gnomAD v3:
2-218814463-G-T
gnomAD v4:
2-218814463-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814463G>T , CM000664.2:g.218814463G>T | GRCh38 |
| NC_000002.11:g.219679186G>T , CM000664.1:g.219679186G>T | GRCh37 |
| NC_000002.10:g.219387430G>T | NCBI36 |
| NG_007959.1:g.37715G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1263+5G>T MANE Select | ENSP00000258415.4:n.1263+5G>T | |
| ENST00000258415.8:c.1263+5G>T | ENSP00000258415.4:n.1263+5G>T | |
| ENST00000494263.5:n.1894G>T | ||
| NM_000784.3:c.1263+5G>T | NP_000775.1:n.1263+5G>T | |
| XM_017003488.2:c.843+5G>T | XP_016858977.1:n.843+5G>T | |
| NM_000784.4:c.1263+5G>T MANE Select | NP_000775.1:n.1263+5G>T |