Linked Data
dbSNP Id:
rs115015150
gnomAD v2:
2-151326084-C-T
gnomAD v3:
2-150469570-C-T
gnomAD v4:
2-150469570-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.150469570C>T , CM000664.2:g.150469570C>T | GRCh38 |
| NC_000002.11:g.151326084C>T , CM000664.1:g.151326084C>T | GRCh37 |
| NC_000002.10:g.151034330C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263895.9:c.*417G>A MANE Select | ENSP00000263895.4:n.*417G>A | |
| ENST00000263895.8:c.*417G>A | ENSP00000263895.4:n.*417G>A | |
| ENST00000375734.6:c.*417G>A | ENSP00000364886.2:n.*417G>A | |
| ENST00000409557.5:c.*417G>A | ENSP00000386576.1:n.*417G>A | |
| NM_001254738.1:c.*417G>A | NP_001241667.1:n.*417G>A | |
| NM_005168.4:c.*417G>A | NP_005159.1:n.*417G>A | |
| NM_005168.5:c.*417G>A MANE Select | NP_005159.1:n.*417G>A |