Linked Data
ClinVar Variation Id:
569127
ClinVar RCV Id:
RCV000689675
dbSNP Id:
rs146862992
ExAC:
7:143048813 A / G
gnomAD v2:
7-143048813-A-G
gnomAD v3:
7-143351720-A-G
gnomAD v4:
7-143351720-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351720A>G , CM000669.2:g.143351720A>G | GRCh38 |
| NC_000007.13:g.143048813A>G , CM000669.1:g.143048813A>G | GRCh37 |
| NC_000007.12:g.142758935A>G | NCBI36 |
| NG_009815.1:g.40595A>G | |
| NG_009815.2:g.40595A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2722A>G | ENSP00000498052.2:p.Asn908Asp | |
| ENST00000343257.7:c.2722A>G MANE Select | ENSP00000339867.2:p.Asn908Asp | |
| ENST00000432192.6:c.2546A>G | ||
| ENST00000343257.6:c.2722A>G | ENSP00000339867.2:p.Asn908Asp | |
| NM_000083.2:c.2722A>G | NP_000074.2:p.Asn908Asp | |
| NR_046453.1:n.2662A>G | ||
| XM_011515781.1:c.2746A>G | XP_011514083.1:p.Asn916Asp | |
| XM_011515782.1:c.1468A>G | XP_011514084.1:p.Asn490Asp | |
| XM_011515782.2:c.1468A>G | XP_011514084.1:p.Asn490Asp | |
| XM_017011739.1:c.2296A>G | XP_016867228.1:p.Asn766Asp | |
| XM_017011740.1:c.2272A>G | XP_016867229.1:p.Asn758Asp | |
| NM_000083.3:c.2722A>G MANE Select | NP_000074.3:p.Asn908Asp | |
| NR_046453.2:n.2677A>G |