Linked Data
dbSNP Id:
rs2164411
gnomAD v2:
2-25452906-G-A
gnomAD v3:
2-25230037-G-A
gnomAD v4:
2-25230037-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25230037G>A , CM000664.2:g.25230037G>A | GRCh38 |
| NC_000002.11:g.25452906G>A , CM000664.1:g.25452906G>A | GRCh37 |
| NC_000002.10:g.25306410G>A | NCBI36 |
| NG_029465.2:g.117554C>T , LRG_459:g.117554C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321117.10:c.*4242C>T MANE Select | ENSP00000324375.5:n.*4242C>T | |
| ENST00000264709.7:c.*4242C>T | ENSP00000264709.3:n.*4242C>T | |
| NR_135490.2:n.7411C>T | ||
| NM_022552.5:c.*4242C>T MANE Select | NP_072046.2:n.*4242C>T |