Linked Data
dbSNP Id:
rs369848050
ExAC:
2:84652727 C / T
gnomAD v2:
2-84652727-C-T
gnomAD v3:
2-84425603-C-T
gnomAD v4:
2-84425603-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425603C>T , CM000664.2:g.84425603C>T | GRCh38 |
| NC_000002.11:g.84652727C>T , CM000664.1:g.84652727C>T | GRCh37 |
| NC_000002.10:g.84506238C>T | NCBI36 |
| NG_016755.1:g.38860G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.826G>A MANE Select | ENSP00000377446.2:p.Gly276Ser | |
| ENST00000651342.1:c.*266G>A | ENSP00000498471.1:n.*266G>A | |
| ENST00000393868.6:c.826G>A | ENSP00000377446.2:p.Gly276Ser | |
| ENST00000484365.1:n.1334G>A | ||
| ENST00000487809.1:n.573G>A | ||
| ENST00000491123.5:n.672G>A | ||
| NM_003849.3:c.826G>A | NP_003840.2:p.Gly276Ser | |
| NM_003849.4:c.826G>A MANE Select | NP_003840.2:p.Gly276Ser |