Linked Data
dbSNP Id:
rs200450104
gnomAD v2:
2-219679551-A-G
gnomAD v3:
2-218814828-A-G
gnomAD v4:
2-218814828-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814828A>G , CM000664.2:g.218814828A>G | GRCh38 |
| NC_000002.11:g.219679551A>G , CM000664.1:g.219679551A>G | GRCh37 |
| NC_000002.10:g.219387795A>G | NCBI36 |
| NG_007959.1:g.38080A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1476+71A>G MANE Select | ENSP00000258415.4:n.1476+71A>G | |
| ENST00000258415.8:c.1476+71A>G | ENSP00000258415.4:n.1476+71A>G | |
| ENST00000494263.5:n.2188+71A>G | ||
| NM_000784.3:c.1476+71A>G | NP_000775.1:n.1476+71A>G | |
| XM_017003488.2:c.1056+71A>G | XP_016858977.1:n.1056+71A>G | |
| NM_000784.4:c.1476+71A>G MANE Select | NP_000775.1:n.1476+71A>G |