Linked Data
dbSNP Id:
rs780189369
ExAC:
2:96958715 T / C
gnomAD v2:
2-96958715-T-C
gnomAD v4:
2-96292977-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96292977T>C , CM000664.2:g.96292977T>C | GRCh38 |
| NC_000002.11:g.96958715T>C , CM000664.1:g.96958715T>C | GRCh37 |
| NC_000002.10:g.96322442T>C | NCBI36 |
| NG_016973.1:g.17583A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.2155A>G MANE Select | ENSP00000317123.5:p.Asn719Asp | |
| ENST00000652267.1:c.2155A>G | ENSP00000498933.1:p.Asn719Asp | |
| ENST00000323853.9:c.2155A>G | ENSP00000317123.5:p.Asn719Asp | |
| NM_014014.4:c.2155A>G | NP_054733.2:p.Asn719Asp | |
| NM_014014.5:c.2155A>G MANE Select | NP_054733.2:p.Asn719Asp |