Linked Data
ClinVar Variation Id:
542185
dbSNP Id:
rs199537542
ExAC:
14:58949289 C / A
gnomAD v2:
14-58949289-C-A
gnomAD v3:
14-58482571-C-A
gnomAD v4:
14-58482571-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58482571C>A , CM000676.2:g.58482571C>A | GRCh38 |
| NC_000014.8:g.58949289C>A , CM000676.1:g.58949289C>A | GRCh37 |
| NC_000014.7:g.58019042C>A | NCBI36 |
| NG_051335.2:g.60187C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619722.5:c.2748C>A | ENSP00000481936.1:p.Asn916Lys | |
| ENST00000650845.1:n.3468C>A | ||
| ENST00000650904.1:c.2922C>A | ENSP00000498606.1:p.Asn974Lys | |
| ENST00000651759.1:c.1671C>A | ENSP00000498415.1:p.Asn557Lys | |
| ENST00000651852.1:c.522C>A | ENSP00000498990.1:p.Asn174Lys | |
| ENST00000651937.1:c.*1206C>A | ENSP00000498785.1:n.*1206C>A | |
| ENST00000652326.2:c.3003C>A MANE Select | ENSP00000498929.1:p.Asn1001Lys | |
| ENST00000652414.1:c.1107C>A | ENSP00000498397.1:p.Asn369Lys | |
| ENST00000652732.1:c.*2488C>A | ENSP00000498799.1:n.*2488C>A | |
| ENST00000261244.9:c.2775C>A | ENSP00000261244.5:p.Asn925Lys | |
| ENST00000354386.10:c.3162C>A | ENSP00000346359.6:p.Asn1054Lys | |
| ENST00000423743.7:c.2871C>A | ENSP00000399427.3:p.Asn957Lys | |
| ENST00000538571.6:n.2593C>A | ||
| ENST00000556134.5:c.2871C>A | ENSP00000452351.2:p.Asn957Lys | |
| ENST00000619416.4:c.2958C>A | ENSP00000478083.1:p.Asn986Lys | |
| ENST00000619722.4:c.2748C>A | ENSP00000481936.1:p.Asn916Lys | |
| NM_001244189.1:c.3162C>A | NP_001231118.1:p.Asn1054Lys | |
| NM_001244190.1:c.2958C>A | NP_001231119.1:p.Asn986Lys | |
| NM_001244191.1:c.2748C>A | NP_001231120.1:p.Asn916Lys | |
| NM_001244192.1:c.2871C>A | NP_001231121.1:p.Asn957Lys | |
| NM_001244193.1:c.2583C>A | NP_001231122.1:p.Asn861Lys | |
| NM_014749.3:c.2775C>A | NP_055564.3:p.Asn925Lys | |
| NM_001329943.2:c.3003C>A | NP_001316872.1:p.Asn1001Lys | |
| NM_001329944.1:c.3003C>A | NP_001316873.1:p.Asn1001Lys | |
| NM_001329945.1:c.2748C>A | NP_001316874.1:p.Asn916Lys | |
| NM_001329946.1:c.3003C>A | NP_001316875.1:p.Asn1001Lys | |
| NM_001329947.1:c.3003C>A | NP_001316876.1:p.Asn1001Lys | |
| NM_001364700.1:c.2748C>A | NP_001351629.1:p.Asn916Lys | |
| NM_001364701.1:c.2748C>A | NP_001351630.1:p.Asn916Lys | |
| NM_014749.4:c.2775C>A | NP_055564.3:p.Asn925Lys | |
| XM_024449779.1:c.3126C>A | XP_024305547.1:p.Asn1042Lys | |
| XM_024449780.1:c.3027C>A | XP_024305548.1:p.Asn1009Lys | |
| XM_024449781.1:c.3126C>A | XP_024305549.1:p.Asn1042Lys | |
| XM_024449782.1:c.2772C>A | XP_024305550.1:p.Asn924Lys | |
| XM_024449783.1:c.2772C>A | XP_024305551.1:p.Asn924Lys | |
| XM_024449784.1:c.2772C>A | XP_024305552.1:p.Asn924Lys | |
| XM_024449785.1:c.2748C>A | XP_024305553.1:p.Asn916Lys | |
| XM_024449787.1:c.2607C>A | XP_024305555.1:p.Asn869Lys | |
| XM_024449788.1:c.2583C>A | XP_024305556.1:p.Asn861Lys | |
| XM_024449789.1:c.2583C>A | XP_024305557.1:p.Asn861Lys | |
| XM_024449791.1:c.3027C>A | XP_024305559.1:p.Asn1009Lys | |
| NM_001244189.2:c.3162C>A | NP_001231118.1:p.Asn1054Lys | |
| NM_001244190.2:c.2958C>A | NP_001231119.1:p.Asn986Lys | |
| NM_001244192.2:c.2871C>A | NP_001231121.1:p.Asn957Lys | |
| NM_001329943.3:c.3003C>A MANE Select | NP_001316872.1:p.Asn1001Lys | |
| NM_001329944.2:c.3003C>A | NP_001316873.1:p.Asn1001Lys | |
| NM_001329945.2:c.2748C>A | NP_001316874.1:p.Asn916Lys | |
| NM_001329946.2:c.3003C>A | NP_001316875.1:p.Asn1001Lys | |
| NM_001329947.2:c.3003C>A | NP_001316876.1:p.Asn1001Lys | |
| NM_001364701.2:c.2748C>A | NP_001351630.1:p.Asn916Lys | |
| NM_014749.5:c.2775C>A | NP_055564.3:p.Asn925Lys | |
| NM_001244191.2:c.2748C>A | NP_001231120.1:p.Asn916Lys | |
| NM_001244193.2:c.2583C>A | NP_001231122.1:p.Asn861Lys |