Linked Data
ClinVar Variation Id:
1477369
ClinVar RCV Id:
RCV001971560
dbSNP Id:
rs780403471
ExAC:
14:58896150 G / A
gnomAD v2:
14-58896150-G-A
gnomAD v4:
14-58429432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58429432G>A , CM000676.2:g.58429432G>A | GRCh38 |
| NC_000014.8:g.58896150G>A , CM000676.1:g.58896150G>A | GRCh37 |
| NC_000014.7:g.57965903G>A | NCBI36 |
| NG_051335.2:g.7048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619722.5:c.14G>A | ENSP00000481936.1:p.Ser5Asn | |
| ENST00000650845.1:n.815G>A | ||
| ENST00000650904.1:c.269G>A | ENSP00000498606.1:p.Ser90Asn | |
| ENST00000651937.1:c.224G>A | ENSP00000498785.1:p.Ser75Asn | |
| ENST00000652326.2:c.269G>A MANE Select | ENSP00000498929.1:p.Ser90Asn | |
| ENST00000652732.1:c.14G>A | ENSP00000498799.1:p.Ser5Asn | |
| ENST00000261244.9:c.269G>A | ENSP00000261244.5:p.Ser90Asn | |
| ENST00000354386.10:c.305G>A | ENSP00000346359.6:p.Ser102Asn | |
| ENST00000423743.7:c.14G>A | ENSP00000399427.3:p.Ser5Asn | |
| ENST00000554463.5:c.14G>A | ENSP00000451831.1:p.Ser5Asn | |
| ENST00000555203.5:c.14G>A | ENSP00000452536.1:p.Ser5Asn | |
| ENST00000555833.5:c.14G>A | ENSP00000450855.1:p.Ser5Asn | |
| ENST00000556134.5:c.14G>A | ENSP00000452351.2:p.Ser5Asn | |
| ENST00000557192.1:n.162G>A | ||
| ENST00000619416.4:c.224G>A | ENSP00000478083.1:p.Ser75Asn | |
| ENST00000619722.4:c.14G>A | ENSP00000481936.1:p.Ser5Asn | |
| NM_001244189.1:c.305G>A | NP_001231118.1:p.Ser102Asn | |
| NM_001244190.1:c.224G>A | NP_001231119.1:p.Ser75Asn | |
| NM_001244191.1:c.14G>A | NP_001231120.1:p.Ser5Asn | |
| NM_001244192.1:c.14G>A | NP_001231121.1:p.Ser5Asn | |
| NM_014749.3:c.269G>A | NP_055564.3:p.Ser90Asn | |
| NM_001329943.2:c.269G>A | NP_001316872.1:p.Ser90Asn | |
| NM_001329944.1:c.269G>A | NP_001316873.1:p.Ser90Asn | |
| NM_001329945.1:c.14G>A | NP_001316874.1:p.Ser5Asn | |
| NM_001329946.1:c.269G>A | NP_001316875.1:p.Ser90Asn | |
| NM_001329947.1:c.269G>A | NP_001316876.1:p.Ser90Asn | |
| NM_001364700.1:c.14G>A | NP_001351629.1:p.Ser5Asn | |
| NM_001364701.1:c.14G>A | NP_001351630.1:p.Ser5Asn | |
| NM_014749.4:c.269G>A | NP_055564.3:p.Ser90Asn | |
| XM_024449779.1:c.269G>A | XP_024305547.1:p.Ser90Asn | |
| XM_024449780.1:c.269G>A | XP_024305548.1:p.Ser90Asn | |
| XM_024449781.1:c.269G>A | XP_024305549.1:p.Ser90Asn | |
| XM_024449782.1:c.14G>A | XP_024305550.1:p.Ser5Asn | |
| XM_024449783.1:c.14G>A | XP_024305551.1:p.Ser5Asn | |
| XM_024449784.1:c.14G>A | XP_024305552.1:p.Ser5Asn | |
| XM_024449785.1:c.14G>A | XP_024305553.1:p.Ser5Asn | |
| XM_024449791.1:c.269G>A | XP_024305559.1:p.Ser90Asn | |
| NM_001244189.2:c.305G>A | NP_001231118.1:p.Ser102Asn | |
| NM_001244190.2:c.224G>A | NP_001231119.1:p.Ser75Asn | |
| NM_001244192.2:c.14G>A | NP_001231121.1:p.Ser5Asn | |
| NM_001329943.3:c.269G>A MANE Select | NP_001316872.1:p.Ser90Asn | |
| NM_001329944.2:c.269G>A | NP_001316873.1:p.Ser90Asn | |
| NM_001329945.2:c.14G>A | NP_001316874.1:p.Ser5Asn | |
| NM_001329946.2:c.269G>A | NP_001316875.1:p.Ser90Asn | |
| NM_001329947.2:c.269G>A | NP_001316876.1:p.Ser90Asn | |
| NM_001364701.2:c.14G>A | NP_001351630.1:p.Ser5Asn | |
| NM_014749.5:c.269G>A | NP_055564.3:p.Ser90Asn | |
| NM_001244191.2:c.14G>A | NP_001231120.1:p.Ser5Asn |