Linked Data
dbSNP Id:
rs115265285
gnomAD v2:
2-25452313-A-G
gnomAD v3:
2-25229444-A-G
gnomAD v4:
2-25229444-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25229444A>G , CM000664.2:g.25229444A>G | GRCh38 |
| NC_000002.11:g.25452313A>G , CM000664.1:g.25452313A>G | GRCh37 |
| NC_000002.10:g.25305817A>G | NCBI36 |
| NG_029465.2:g.118147T>C , LRG_459:g.118147T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321117.10:c.*4835T>C MANE Select | ENSP00000324375.5:n.*4835T>C | |
| ENST00000264709.7:c.*4835T>C | ENSP00000264709.3:n.*4835T>C | |
| NR_135490.2:n.8004T>C | ||
| NM_022552.5:c.*4835T>C MANE Select | NP_072046.2:n.*4835T>C |