Linked Data
dbSNP Id:
rs940890058
gnomAD v2:
7-114282557-G-A
gnomAD v3:
7-114642502-G-A
gnomAD v4:
7-114642502-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114642502G>A , CM000669.2:g.114642502G>A | GRCh38 |
| NC_000007.13:g.114282557G>A , CM000669.1:g.114282557G>A | GRCh37 |
| NC_000007.12:g.114069793G>A | NCBI36 |
| NG_007491.2:g.561193G>A | |
| NG_007491.3:g.561193G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403559.9:c.919G>A | ENSP00000385069.4:p.Asp307Asn | |
| ENST00000703612.1:c.859G>A | ENSP00000515396.1:p.Asp287Asn | |
| ENST00000703613.1:c.919G>A | ENSP00000515397.1:p.Asp307Asn | |
| ENST00000703614.1:c.868G>A | ENSP00000515398.1:p.Asp290Asn | |
| ENST00000703616.1:c.994G>A | ENSP00000515400.1:p.Asp332Asn | |
| ENST00000703617.1:c.592G>A | ENSP00000515401.1:p.Asp198Asn | |
| ENST00000703618.1:c.146G>A | ||
| ENST00000350908.9:c.868G>A MANE Select | ENSP00000265436.7:p.Asp290Asn | |
| ENST00000393489.8:c.*662G>A | ENSP00000377129.4:n.*662G>A | |
| ENST00000350908.8:c.868G>A | ENSP00000265436.7:p.Asp290Asn | |
| ENST00000360232.8:c.868G>A | ENSP00000353367.4:p.Asp290Asn | |
| ENST00000378237.7:c.868G>A | ENSP00000367482.3:p.Asp290Asn | |
| ENST00000390668.3:c.940G>A | ENSP00000375084.3:p.Asp314Asn | |
| ENST00000393489.7:c.592G>A | ENSP00000377129.3:p.Asp198Asn | |
| ENST00000393491.7:c.592G>A | ENSP00000377130.3:p.Asp198Asn | |
| ENST00000393494.6:c.868G>A | ENSP00000377132.2:p.Asp290Asn | |
| ENST00000393495.7:c.430G>A | ENSP00000377133.3:p.Asp144Asn | |
| ENST00000393498.6:c.805G>A | ENSP00000377135.2:p.Asp269Asn | |
| ENST00000403559.8:c.919G>A | ENSP00000385069.4:p.Asp307Asn | |
| ENST00000408937.7:c.943G>A | ENSP00000386200.3:p.Asp315Asn | |
| ENST00000412402.5:c.*788G>A | ENSP00000405470.1:n.*788G>A | |
| ENST00000441290.6:c.*713G>A | ENSP00000416825.1:n.*713G>A | |
| ENST00000634372.1:n.222-9701G>A | ||
| ENST00000634411.1:c.817G>A | ENSP00000489135.1:p.Asp273Asn | |
| ENST00000634623.1:c.808G>A | ENSP00000488944.1:p.Asp270Asn | |
| ENST00000635109.1:c.*665G>A | ENSP00000489457.1:n.*665G>A | |
| ENST00000635534.1:c.859G>A | ENSP00000489229.1:p.Asp287Asn | |
| ENST00000635563.1:c.408G>A | ||
| ENST00000635638.1:c.871G>A | ENSP00000489073.1:p.Asp291Asn | |
| NM_001172766.2:c.865G>A | NP_001166237.1:p.Asp289Asn | |
| NM_001172767.2:c.943G>A | NP_001166238.1:p.Asp315Asn | |
| NM_014491.3:c.868G>A | NP_055306.1:p.Asp290Asn | |
| NM_148898.3:c.943G>A | NP_683696.2:p.Asp315Asn | |
| NM_148899.3:c.868G>A | NP_683697.2:p.Asp290Asn | |
| NM_148900.3:c.919G>A | NP_683698.2:p.Asp307Asn | |
| NR_033766.1:n.1455G>A | ||
| NR_033767.1:n.1300G>A | ||
| XM_011516706.1:c.1012G>A | XP_011515008.1:p.Asp338Asn | |
| XM_017012801.2:c.943G>A | XP_016868290.1:p.Asp315Asn | |
| NM_014491.4:c.868G>A MANE Select | NP_055306.1:p.Asp290Asn | |
| NM_001172766.3:c.865G>A | NP_001166237.1:p.Asp289Asn | |
| NM_148898.4:c.943G>A | NP_683696.2:p.Asp315Asn | |
| NR_033766.2:n.1438G>A | ||
| NR_033767.2:n.1482G>A | ||
| NM_148900.4:c.919G>A | NP_683698.2:p.Asp307Asn |