Linked Data
dbSNP Id:
rs772803719
ExAC:
8:94935158 G / A
gnomAD v2:
8-94935158-G-A
gnomAD v4:
8-93922930-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93922930G>A , CM000670.2:g.93922930G>A | GRCh38 |
| NC_000008.10:g.94935158G>A , CM000670.1:g.94935158G>A | GRCh37 |
| NC_000008.9:g.95004334G>A | NCBI36 |
| NG_012233.1:g.10997G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.871G>A MANE Select | ENSP00000297598.4:p.Asp291Asn | |
| ENST00000297598.4:c.871G>A | ENSP00000297598.4:p.Asp291Asn | |
| ENST00000396200.3:c.946G>A | ENSP00000379503.3:p.Asp316Asn | |
| ENST00000517764.1:c.871G>A | ENSP00000430380.1:p.Asp291Asn | |
| ENST00000520728.5:c.871G>A | ENSP00000428317.1:p.Asp291Asn | |
| NM_001161779.1:c.946G>A | NP_001155251.1:p.Asp316Asn | |
| NM_001161780.1:c.946G>A | NP_001155252.1:p.Asp316Asn | |
| NM_001161781.1:c.871G>A | NP_001155253.1:p.Asp291Asn | |
| NM_018444.3:c.871G>A | NP_060914.2:p.Asp291Asn | |
| XM_011517135.1:c.925G>A | XP_011515437.1:p.Asp309Asn | |
| XM_011517136.1:c.871G>A | XP_011515438.1:p.Asp291Asn | |
| XM_011517137.1:c.871G>A | XP_011515439.1:p.Asp291Asn | |
| XM_011517135.2:c.925G>A | XP_011515437.1:p.Asp309Asn | |
| XM_011517136.2:c.871G>A | XP_011515438.1:p.Asp291Asn | |
| XM_017013588.1:c.1033G>A | XP_016869077.1:p.Asp345Asn | |
| NM_018444.4:c.871G>A MANE Select | NP_060914.2:p.Asp291Asn | |
| NM_001161780.2:c.946G>A | NP_001155252.1:p.Asp316Asn | |
| NM_001161781.2:c.871G>A | NP_001155253.1:p.Asp291Asn | |
| NM_001161779.2:c.946G>A | NP_001155251.1:p.Asp316Asn |