Linked Data
dbSNP Id:
rs1463298297
gnomAD v2:
1-94526298-T-C
gnomAD v3:
1-94060742-T-C
gnomAD v4:
1-94060742-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060742T>C , CM000663.2:g.94060742T>C | GRCh38 |
| NC_000001.10:g.94526298T>C , CM000663.1:g.94526298T>C | GRCh37 |
| NC_000001.9:g.94298886T>C | NCBI36 |
| NG_009073.1:g.65408A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1955A>G MANE Select | ENSP00000359245.3:p.Asn652Ser | |
| ENST00000649773.1:c.1955A>G | ENSP00000496882.1:p.Asn652Ser | |
| ENST00000370225.3:c.1955A>G | ENSP00000359245.3:p.Asn652Ser | |
| ENST00000472033.1:n.75A>G | ||
| ENST00000536513.5:c.-65+2432A>G | ENSP00000439707.2:n.-65+2432A>G | |
| NM_000350.2:c.1955A>G | NP_000341.2:p.Asn652Ser | |
| NM_000350.3:c.1955A>G MANE Select | NP_000341.2:p.Asn652Ser |