Linked Data
ClinVar Variation Id:
969423
ClinVar RCV Id:
RCV001244772
dbSNP Id:
rs1803424950
gnomAD v3:
7-143351942-G-A
gnomAD v4:
7-143351942-G-A
COSMIC:
COSM3635214
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351942G>A , CM000669.2:g.143351942G>A | GRCh38 |
| NC_000007.13:g.143049035G>A , CM000669.1:g.143049035G>A | GRCh37 |
| NC_000007.12:g.142759157G>A | NCBI36 |
| NG_009815.1:g.40817G>A | |
| NG_009815.2:g.40817G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2944G>A | ENSP00000498052.2:p.Asp982Asn | |
| ENST00000343257.7:c.2944G>A MANE Select | ENSP00000339867.2:p.Asp982Asn | |
| ENST00000343257.6:c.2944G>A | ENSP00000339867.2:p.Asp982Asn | |
| NM_000083.2:c.2944G>A | NP_000074.2:p.Asp982Asn | |
| NR_046453.1:n.2884G>A | ||
| XM_011515781.1:c.2968G>A | XP_011514083.1:p.Asp990Asn | |
| XM_011515782.1:c.1690G>A | XP_011514084.1:p.Asp564Asn | |
| XM_011515782.2:c.1690G>A | XP_011514084.1:p.Asp564Asn | |
| XM_017011739.1:c.2518G>A | XP_016867228.1:p.Asp840Asn | |
| XM_017011740.1:c.2494G>A | XP_016867229.1:p.Asp832Asn | |
| NM_000083.3:c.2944G>A MANE Select | NP_000074.3:p.Asp982Asn | |
| NR_046453.2:n.2899G>A |