Linked Data
ClinVar Variation Id:
1507340
ClinVar RCV Id:
RCV002048052
dbSNP Id:
rs899517052
gnomAD v2:
11-68682439-G-A
gnomAD v3:
11-68914971-G-A
gnomAD v4:
11-68914971-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914971G>A , CM000673.2:g.68914971G>A | GRCh38 |
| NC_000011.9:g.68682439G>A , CM000673.1:g.68682439G>A | GRCh37 |
| NC_000011.8:g.68439015G>A | NCBI36 |
| NG_007976.1:g.16121G>A , LRG_250:g.16121G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.860G>A MANE Select | ENSP00000255078.4:p.Ser287Asn | |
| ENST00000539224.2:c.989G>A | ||
| ENST00000674955.1:c.860G>A | ENSP00000502463.1:p.Ser287Asn | |
| ENST00000675118.1:c.207G>A | ||
| ENST00000675119.1:c.149G>A | ENSP00000501861.1:p.Ser50Asn | |
| ENST00000675305.1:c.149G>A | ENSP00000502365.1:p.Ser50Asn | |
| ENST00000675464.1:c.149G>A | ENSP00000502650.1:p.Ser50Asn | |
| ENST00000675615.1:c.860G>A | ENSP00000502413.1:p.Ser287Asn | |
| ENST00000675683.1:c.247G>A | ||
| ENST00000676173.1:n.904G>A | ||
| ENST00000676228.1:c.*183G>A | ENSP00000502375.1:n.*183G>A | |
| ENST00000676239.1:n.174G>A | ||
| ENST00000255078.7:c.860G>A | ENSP00000255078.3:p.Ser287Asn | |
| NM_002180.2:c.860G>A , LRG_250t1:c.860G>A | NP_002171.2:p.Ser287Asn | |
| XM_005273974.2:c.-152G>A | XP_005274031.1:n.-152G>A | |
| XM_005273976.1:c.860G>A | XP_005274033.1:p.Ser287Asn | |
| XR_247198.1:n.962G>A | ||
| XR_949903.1:n.962G>A | ||
| XM_005273976.2:c.860G>A | XP_005274033.1:p.Ser287Asn | |
| XM_017017669.2:c.-152G>A | XP_016873158.1:n.-152G>A | |
| XM_017017670.2:c.-152G>A | XP_016873159.1:n.-152G>A | |
| XM_017017671.2:c.860G>A | XP_016873160.1:p.Ser287Asn | |
| XR_949903.3:n.958G>A | ||
| NM_002180.3:c.860G>A MANE Select | NP_002171.2:p.Ser287Asn |