Linked Data
ClinVar Variation Id:
193313
ClinVar RCV Id:
RCV000173375
dbSNP Id:
rs761312566
ExAC:
2:45169242 C / G
gnomAD v2:
2-45169242-C-G
gnomAD v4:
2-44942103-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942103C>G , CM000664.2:g.44942103C>G | GRCh38 |
| NC_000002.11:g.45169242C>G , CM000664.1:g.45169242C>G | GRCh37 |
| NC_000002.10:g.45022746C>G | NCBI36 |
| NG_016222.1:g.5206C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260653.5:c.-2C>G MANE Select | ENSP00000260653.3:n.-2C>G | |
| ENST00000260653.4:c.-2C>G | ENSP00000260653.3:n.-2C>G | |
| NM_005413.3:c.-2C>G | NP_005404.1:n.-2C>G | |
| XM_011533042.1:c.-2C>G | XP_011531344.1:n.-2C>G | |
| NM_005413.4:c.-2C>G MANE Select | NP_005404.1:n.-2C>G |