Linked Data
dbSNP Id:
rs1213642743
gnomAD v2:
X-30322820-T-C
gnomAD v3:
X-30304703-T-C
gnomAD v4:
X-30304703-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304703T>C , CM000685.2:g.30304703T>C | GRCh38 |
| NC_000023.10:g.30322820T>C , CM000685.1:g.30322820T>C | GRCh37 |
| NC_000023.9:g.30232741T>C | NCBI36 |
| NG_009814.1:g.9676A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1289A>G MANE Select | ENSP00000368253.4:p.Asn430Ser | |
| ENST00000378970.4:c.1289A>G | ENSP00000368253.4:p.Asn430Ser | |
| NM_000475.4:c.1289A>G | NP_000466.2:p.Asn430Ser | |
| NM_000475.5:c.1289A>G MANE Select | NP_000466.2:p.Asn430Ser |