Linked Data
dbSNP Id:
rs777003657
ExAC:
2:21229894 A / T
gnomAD v2:
2-21229894-A-T
gnomAD v4:
2-21007022-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21007022A>T , CM000664.2:g.21007022A>T | GRCh38 |
| NC_000002.11:g.21229894A>T , CM000664.1:g.21229894A>T | GRCh37 |
| NC_000002.10:g.21083399A>T | NCBI36 |
| NG_011793.1:g.42052T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.9846T>A MANE Select | ENSP00000233242.1:p.Ser3282Arg | |
| ENST00000616098.4:c.9846T>A | ENSP00000477990.1:p.Ser3282Arg | |
| NM_000384.2:c.9846T>A | NP_000375.2:p.Ser3282Arg | |
| XM_011532809.1:c.5869+3711T>A | XP_011531111.1:n.5869+3711T>A | |
| NM_000384.3:c.9846T>A MANE Select | NP_000375.3:p.Ser3282Arg |