Linked Data
dbSNP Id:
rs1256218315
gnomAD v2:
1-94467542-T-C
gnomAD v3:
1-94001986-T-C
gnomAD v4:
1-94001986-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001986T>C , CM000663.2:g.94001986T>C | GRCh38 |
| NC_000001.10:g.94467542T>C , CM000663.1:g.94467542T>C | GRCh37 |
| NC_000001.9:g.94240130T>C | NCBI36 |
| NG_009073.1:g.124164A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6154A>G MANE Select | ENSP00000359245.3:p.Asn2052Asp | |
| ENST00000370225.3:c.6154A>G | ENSP00000359245.3:p.Asn2052Asp | |
| ENST00000465352.1:n.570A>G | ||
| ENST00000536513.5:c.2530A>G | ENSP00000439707.2:p.Asn844Asp | |
| NM_000350.2:c.6154A>G | NP_000341.2:p.Asn2052Asp | |
| NM_000350.3:c.6154A>G MANE Select | NP_000341.2:p.Asn2052Asp |